fukutin related protein

Summary

Gene Symbol: fukutin related protein
Description: fukutin related protein
Alias: LGMD2I, MDC1C, MDDGA5, MDDGB5, MDDGC5
Species: human

Top Publications

  1. pmc New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families
    Nacim Louhichi
    Laboratoire de Génétique Moléculaire Humaine, Faculte de Medecine de Sfax, Avenue Majida Boulila, 3029 Sfax, Tunisia
    Neurogenetics 5:27-34. 2004
  2. ncbi Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells
    Christopher T Esapa
    Department of Pharmacology, University of Oxford, UK
    Hum Mol Genet 14:295-305. 2005
  3. ncbi Subcellular localization of fukutin and fukutin-related protein in muscle cells
    Hiroshi Matsumoto
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo 187 8502, Japan
    J Biochem 135:709-12. 2004
  4. ncbi Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C
    M Brockington
    Dubowitz Neuromuscular Centre, Department of Paediatrics, Faculty of Medicine, Imperial College, Hammersmith Hospital Campus, London, UK
    Hum Mol Genet 10:2851-9. 2001
  5. ncbi Phenotypic spectrum associated with mutations in the fukutin-related protein gene
    Eugenio Mercuri
    Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial College London, Hammersmith Hospital Campus, London, United Kingdom
    Ann Neurol 53:537-42. 2003
  6. doi Mutations alter secretion of fukutin-related protein
    Pei J Lu
    McColl Lockwood Laboratory for Muscular Dystrophy Research, Neuromuscular ALS Center, Carolinas Medical Center, 1000 Blythe Blvd Charlotte, NC 28231, USA
    Biochim Biophys Acta 1802:253-8. 2010
  7. ncbi Dilated cardiomyopathy may be an early sign of the C826A Fukutin-related protein mutation
    T Muller
    Department of Neurology, Martin Luther University Halle Wittenberg, Ernst Grube Str 40, D 06097 Halle Saale, Germany
    Neuromuscul Disord 15:372-6. 2005
  8. pmc Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan
    M Brockington
    The Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial College School of Medicine, Hammersmith Hospital Campus, London, United Kindom
    Am J Hum Genet 69:1198-209. 2001
  9. ncbi Mutated fukutin-related protein (FKRP) localises as wild type in differentiated muscle cells
    N F Dolatshad
    Dubowitz Neuromuscular Unit, Department of Paediatrics, Hammersmith Hospital, Imperial College, Du Cane Road, London W12 ONN, UK
    Exp Cell Res 309:370-8. 2005
  10. doi Reduced expression of fukutin related protein in mice results in a model for fukutin related protein associated muscular dystrophies
    M R Ackroyd
    Department of Cellular and Molecular Neuroscience, Hammersmith Hospital, Imperial College, London, UK
    Brain 132:439-51. 2009

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Scientific Experts

Detail Information

Publications135 found, 100 shown here

  1. pmc New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families
    Nacim Louhichi
    Laboratoire de Génétique Moléculaire Humaine, Faculte de Medecine de Sfax, Avenue Majida Boulila, 3029 Sfax, Tunisia
    Neurogenetics 5:27-34. 2004
    ..severe congenital form with or without mental retardation (MDC1C) to a much milder limb-girdle muscular dystrophy (LGMD2I)...
  2. ncbi Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells
    Christopher T Esapa
    Department of Pharmacology, University of Oxford, UK
    Hum Mol Genet 14:295-305. 2005
    ..a spectrum of diseases including congenital muscular dystrophy type 1C (MDC1C), limb girdle muscular dystrophy 2I (LGMD2I) and congenital muscular dystrophies (CMDs) with brain malformations and mental retardation...
  3. ncbi Subcellular localization of fukutin and fukutin-related protein in muscle cells
    Hiroshi Matsumoto
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo 187 8502, Japan
    J Biochem 135:709-12. 2004
    ..Our data suggest that fukutin and FKRP may be involved at different steps in O-mannosylglycan synthesis of alpha-dystroglycan, and FKRP is most likely involved in the initial step in this synthesis...
  4. ncbi Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C
    M Brockington
    Dubowitz Neuromuscular Centre, Department of Paediatrics, Faculty of Medicine, Imperial College, Hammersmith Hospital Campus, London, UK
    Hum Mol Genet 10:2851-9. 2001
    ..Both MDC1C and LGMD2I map to an identical region on chromosome 19q13.3...
  5. ncbi Phenotypic spectrum associated with mutations in the fukutin-related protein gene
    Eugenio Mercuri
    Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial College London, Hammersmith Hospital Campus, London, United Kingdom
    Ann Neurol 53:537-42. 2003
    ..The other 18 had limb girdle muscular dystrophy (LGMD2I). Eleven showed a Duchenne-like course with loss of ambulation in the early teens while 7 had a milder phenotype...
  6. doi Mutations alter secretion of fukutin-related protein
    Pei J Lu
    McColl Lockwood Laboratory for Muscular Dystrophy Research, Neuromuscular ALS Center, Carolinas Medical Center, 1000 Blythe Blvd Charlotte, NC 28231, USA
    Biochim Biophys Acta 1802:253-8. 2010
    Mutations in the fukutin-related protein (FKRP) gene cause limb-girdle muscular dystrophy type 2I (LGMD2I) as well as other severe muscle disorders, including Walker-Warburg syndrome, muscle-eye-brain disease, and congenital muscular ..
  7. ncbi Dilated cardiomyopathy may be an early sign of the C826A Fukutin-related protein mutation
    T Muller
    Department of Neurology, Martin Luther University Halle Wittenberg, Ernst Grube Str 40, D 06097 Halle Saale, Germany
    Neuromuscul Disord 15:372-6. 2005
    Limb-girdle muscular dystrophy LGMD2I is caused by mutations in the fukutin-related protein (FKRP) gene...
  8. pmc Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan
    M Brockington
    The Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial College School of Medicine, Hammersmith Hospital Campus, London, United Kindom
    Am J Hum Genet 69:1198-209. 2001
    ..Here we identify the gene for a new member of the fukutin protein family (fukutin related protein [FKRP]), mapping to human chromosome 19q13.3...
  9. ncbi Mutated fukutin-related protein (FKRP) localises as wild type in differentiated muscle cells
    N F Dolatshad
    Dubowitz Neuromuscular Unit, Department of Paediatrics, Hammersmith Hospital, Imperial College, Du Cane Road, London W12 ONN, UK
    Exp Cell Res 309:370-8. 2005
    ..Immunolabelling of FKRP in the muscle of MDC1C and LGMD2I patients was found to be indistinguishable from normal controls...
  10. doi Reduced expression of fukutin related protein in mice results in a model for fukutin related protein associated muscular dystrophies
    M R Ackroyd
    Department of Cellular and Molecular Neuroscience, Hammersmith Hospital, Imperial College, London, UK
    Brain 132:439-51. 2009
    Mutations in fukutin related protein (FKRP) are responsible for a common group of muscular dystrophies ranging from adult onset limb girdle muscular dystrophies to severe congenital forms with associated structural brain involvement, ..
  11. ncbi Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of alpha-dystroglycan
    Cheryl Longman
    Dubowitz Neuromuscular Centre, Imperial College, Hammersmith Campus, London, UK
    Hum Mol Genet 12:2853-61. 2003
    ..This is the first description of mutations in the human LARGE gene and we propose to name this new disorder MDC1D...
  12. ncbi Golgi complex organization in skeletal muscle: a role for Golgi-mediated glycosylation in muscular dystrophies?
    Justin M Percival
    Department of Physiology and Biophysics, University of Washington, Seattle, WA 98195, USA
    Traffic 8:184-94. 2007
    ..Here, we review the current understanding of the dynamic regulation of GC organization in skeletal muscle and focus on the targeting of fukutin, fukutin-related protein and large1 to the GC in muscle cells...
  13. ncbi New POMT2 mutations causing congenital muscular dystrophy: identification of a founder mutation
    A Yanagisawa
    INSERM, U582, Institut de Myologie, Groupe Hospitalier Pitie Salpetriere, Paris, France
    Neurology 69:1254-60. 2007
    ..POMT2 mutations have recently been identified in Walker-Warburg syndrome and in a milder muscle-eye-brain disease-like form...
  14. ncbi Functional requirements for fukutin-related protein in the Golgi apparatus
    Chris T Esapa
    Department of Pharmacology, University of Oxford, Oxford, UK
    Hum Mol Genet 11:3319-31. 2002
    ..Additionally, mutations in the FKRP gene also cause limb-girdle muscular dystrophy type 2I (LGMD2I), a considerably milder allelic variant than MDC1C...
  15. doi Cardiac assessment of limb-girdle muscular dystrophy 2I patients: an echography, Holter ECG and magnetic resonance imaging study
    Karim Wahbi
    Myology Institute, Pitie Salpetriere Hospital, APHP, Paris, France
    Neuromuscul Disord 18:650-5. 2008
    ..The aim of our study was to assess myocardial involvement in patients with LGMD2I, using physical examination, echocardiography, resting and 24-h ambulatory electrocardiogram and cardiac magnetic ..
  16. ncbi Brain MRI abnormalities in muscular dystrophy due to FKRP mutations
    Susana Quijano-Roy
    Unité de Neurologie Pediatrique, Service de Pediatrie, Rééducation et Réanimation Neurorespiratoire, Hopital Raymond Poincare, 92380, Garches, France
    Brain Dev 28:232-42. 2006
    FKRP mutations cause a muscular dystrophy which may present in the neonatal period (MDC1C) or later in life (LGMD2I)...
  17. ncbi Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs
    Dirk Fischer
    Dept of Neurology, University of Bonn, Sigmund Freud Str 25, 53105 Bonn, Germany
    J Neurol 252:538-47. 2005
    ..fukutin-related protein (FKRP) have recently been demonstrated to cause limb girdle muscular dystrophy type 2I (LGMD2I), one of the most common forms of the autosomal recessive LGMDs in Europe...
  18. ncbi Fukutin-related protein associates with the sarcolemmal dystrophin-glycoprotein complex
    Aaron M Beedle
    Howard Hughes Medical Institute HHMI, Departments of Molecular Physiology, University of Iowa Carver College of Medicine, Iowa City, Iowa 52242, USA
    J Biol Chem 282:16713-7. 2007
    ..These data offer the first evidence of an FKRP complex in muscle and suggest that FKRP may influence the glycosylation status of dystroglycan from within the sarcolemmal dystrophin-glycoprotein complex...
  19. doi A homozygous FKRP start codon mutation is associated with Walker-Warburg syndrome, the severe end of the clinical spectrum
    J van Reeuwijk
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Clin Genet 78:275-81. 2010
    ..The clinical phenotype of the patients was consistent with Walker-Warburg syndrome, the most severe disorder in the disease spectrum of dystroglycanopathies...
  20. doi Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype
    Uluc Yis
    Gaziantep Children s Hospital, Department of Pediatric Neurology, Gaziantep, Turkey
    Neuromuscul Disord 21:20-30. 2011
    ..muscular dystrophy types 1C and 1D and some forms of autosomal recessive limb-girdle muscular dystrophy (LGMD2I, LGMD2K, LGMD2M), and is associated with mutations in the above genes...
  21. pmc Cardiac pathology exceeds skeletal muscle pathology in two cases of limb-girdle muscular dystrophy type 2I
    Marta Margeta
    Department of Pathology, University of California San Francisco, 513 Parnassus Avenue, HSW 514, San Francisco, California 94143, USA
    Muscle Nerve 40:883-9. 2009
    ....
  22. ncbi Limb-girdle muscular dystrophy in the Netherlands: gene defect identified in half the families
    A J van der Kooi
    Department of Neurology, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
    Neurology 68:2125-8. 2007
    ..In 51% of all families a classifying diagnosis was made. Several new mutations in LGMD2A, B, and C patients have been found in this population...
  23. pmc FKRP (826C>A) frequently causes limb-girdle muscular dystrophy in German patients
    M C Walter
    Gene Center, Friedrich Baur Institute, and Department of Neurology, Ludwig Maximilians University of Munich, Germany
    J Med Genet 41:e50. 2004
  24. ncbi Characterization of the LARGE family of putative glycosyltransferases associated with dystroglycanopathies
    Prabhjit K Grewal
    Institute of Genetics, Queen s Medical Centre, University of Nottingham, Nottingham NG7 2UH, UK
    Glycobiology 15:912-23. 2005
    ..Thus, there may be functional redundancy between LARGE1 and LARGE2. Consistent with this idea, we show that alpha-DG is still fully glycosylated in kidney (a tissue that expresses a high level of LARGE2 mRNA) of Large(myd) mutant mice...
  25. ncbi Glycosylation defects in inherited muscle disease
    J E Hewitt
    Institute of Genetics, Queen s Medical Centre, University of Nottingham, Nottingham NG7 2UH, United Kingdom
    Cell Mol Life Sci 60:251-8. 2003
    ..Two forms of congenital muscular dystrophy, Fukuyama-type and MDC1C, result from mutations in members of the fukutin family...
  26. ncbi Limb girdle muscular dystrophy type 2I caused by a novel missense mutation in the FKRP gene presenting as acute virus-associated myositis in infancy
    Maja von der Hagen
    Department of Paediatric Neurology, Children s Hospital, Technical University Dresden, Fetscherstrasse 74, 01307, Dresden, Germany
    Eur J Pediatr 165:62-3. 2006
  27. doi A New Mouse Model of Limb-Girdle Muscular Dystrophy Type 2I Homozygous for the Common L276I Mutation Mimicking the Mild Phenotype in Humans
    Thomas O Krag
    From the Copenhagen Neuromuscular Research Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
    J Neuropathol Exp Neurol 74:1137-46. 2015
    Limb-girdle muscular dystrophy type 2I (LGMD2I) is caused by mutations in the Fukutin-related protein (FKRP) gene, leading to inadequate glycosylation of α-dystroglycan, an important protein linking the extracellular matrix to the ..
  28. doi Ataxia, intellectual disability, and ocular apraxia with cerebellar cysts: a new disease?
    Andrea Poretti
    Department of Pediatric Neurology, University Children s Hospital of Zurich, Steinwiesstrasse 75, 8032, Zurich, Switzerland
    Cerebellum 13:79-88. 2014
    ..The peculiar combination of the same clinical and neuroimaging findings in our patients highly suggests that this phenotype may represent a novel entity, possibly falling within the spectrum of dystroglycanopathies. ..
  29. ncbi Congenital muscular dystrophy with muscle inflammation alpha dystroglycan glycosylation defect and no mutation in FKRP gene
    Costanza Lamperti
    Centro Dino Ferrari, Dipartimento di Scienze Neurologiche, Unità Operativa Neurologia, Fondazione I R C C S Ospedale Maggiore Policlinico Mangiagalli e Regina Elena, University of Milan, Milan, Italy
    J Neurol Sci 243:47-51. 2006
    ..The analysis of FKRP, LARGE, POMT1 and POMGnT1 genes did not show any pathogenic mutations, suggesting that at least another gene may account for CMD with secondary glycosylated alpha-DG deficiency...
  30. ncbi Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives
    Umbertina Conti Reed
    Departamento de Neurologia, Universidade de Sao Paulo, SP, Brazil
    Arq Neuropsiquiatr 67:343-62. 2009
    ..abnormal glycosylation of alpha-dystroglycan (Fukuyama CMD, Muscle-eye-brain disease, Walker Warburg syndrome, MDC1C, MDC1D), and rigid spine syndrome, another much rare subtype of CMDs not related with the dystrophin/glycoproteins/..
  31. pmc Quantitative magnetic resonance imaging in limb-girdle muscular dystrophy 2I: a multinational cross-sectional study
    Tracey A Willis
    Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, United Kingdom The Robert Jones and Agnes Hunt Orthopaedic Hospital, Oswestry, Shropshire, United Kingdom
    PLoS ONE 9:e90377. 2014
    ..of muscle pathology using magnetic resonance imaging (MRI) in patients with limb-girdle muscular dystrophy 2I (LGMD2I). Thirty eight adult ambulant LGMD2I patients (19 male; 19 female) with genetically identical mutations (c...
  32. pmc Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic
    Kristyna Stehlikova
    Centre of Molecular Biology and Gene Therapy, University Hospital Brno, Cernopolni 9, Brno, 613 00, Czech Republic
    BMC Neurol 14:154. 2014
    ..In this study, we determined the frequency of LGMD subtypes within a cohort of Czech LGMD2 patients using mutational analysis of the CAPN3, FKRP, SGCA, and ANO5 genes...
  33. pmc Muscular dystrophies due to glycosylation defects
    Francesco Muntoni
    Department of Neuroscience, Dubowitz Neuromuscular Centre, UCL Institute of Child Health and Great Ormond Street Hospital, London, United Kingdom
    Neurotherapeutics 5:627-32. 2008
    ..type 1C), and to limb-girdle muscular dystrophy (LGMD) type 2 variants with onset in childhood or adult life (LGMD2I, LGMD2L, and LGMD2N)...
  34. doi Restoration of Functional Glycosylation of α-Dystroglycan in FKRP Mutant Mice Is Associated with Muscle Regeneration
    Hiroyuki Awano
    McColl Lockwood Laboratory for Muscular Dystrophy Research, Cannon Research Center, Carolinas Medical Center, Charlotte, North Carolina
    Am J Pathol 185:2025-37. 2015
    ..Identification of factors other than LARGE and FKRP could generate new approaches for restoration of F-α-DG in mature muscle fibers with defects in FKRP functions. ..
  35. doi Significant response to immune therapies in a case of subacute necrotizing myopathy and FKRP mutations
    J Svahn
    Department of Clinical Neurophysiology, Hospices Civils de Lyon, Croix Rousse University Hospital, Lyon, France Electronic address
    Neuromuscul Disord 25:865-8. 2015
    ..The response to immune therapies suggested a possible inflammatory component associated with the muscular dystrophy and highlighted the potential benefit of corticosteroid treatment in patients with LGMD2I and subacute onset.
  36. ncbi A case of Walker-Warburg syndrome resulting from a homozygous POMT1 mutation
    Uluc Yis
    Faculty of Medicine, Department of Child Neurology, University of Dokuz Eylul, 35340 Izmir, Turkey
    Eur J Paediatr Neurol 11:46-9. 2007
    ..A brain MRI obtained after birth revealed type II lissencephaly, hydrocephalus, and pontocerebellar hypoplasia. The case also exhibited severe ocular malformations and muscular hypotonia due to CMD...
  37. pmc Drosophila muscleblind is involved in troponin T alternative splicing and apoptosis
    Marta Vicente-Crespo
    Department of Genetics, University of Valencia, Valencia, Spain
    PLoS ONE 3:e1613. 2008
    ..Such transition fails in the CTG repeat expansion disease myotonic dystrophy due, in part, to sequestration of MBNL proteins by CUG repeat RNA. Four protein isoforms (MblA-D) are coded by the unique Drosophila muscleblind gene...
  38. doi Diagnostic clues and manifesting carriers in fukutin-related protein (FKRP) limb-girdle muscular dystrophy
    Lucia V Schottlaender
    Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK
    J Neurol Sci 348:266-8. 2015
    ..Heterozygous carriers are usually clinically unaffected. We report a patient presenting later in life with life-threatening cardiac failure and we describe for the first time clinically manifesting carriers in the family. ..
  39. ncbi Hutterite brothers both affected with two forms of limb girdle muscular dystrophy: LGMD2H and LGMD2I
    Patrick Frosk
    Department of Biochemistry and Medical Genetics, University of Manitoba, Winnipeg, Canada
    Eur J Hum Genet 13:978-82. 2005
    ..1459G>A mutation in TRIM32 associated with LGMD2H. We have also identified Hutterite patients with LGMD2I, homozygous for the common c.826C>A mutation in FKRP...
  40. ncbi Molecular bases of autosomal recessive limb-girdle muscular dystrophies
    V Nigro
    Dipartimento di Patologia Generale e Centro di Eccellenza sulle Malattie Cardiovascolari, Seconda Universita degli Studi di Napoli, Telethon Institute of Genetics and Medicine TIGEM, Napoli, Italy
    Acta Myol 22:35-42. 2003
    ..LGMD2C), delta-sarcoglycan (LGMD2F), telethonin (LGMD2G), TRIM32 (LGMD2H), fukutin-related protein (LGMD2I) and titin (LGMD2J). There are, however, at least 25% of families who can be excluded from any known locus...
  41. doi Prevalence, mutation spectrum and phenotypic variability in Norwegian patients with Limb Girdle Muscular Dystrophy 2I
    Eva Stensland
    Department of Habilitation, University Hospital of North Norway, Tromsø, Norway
    Neuromuscul Disord 21:41-6. 2011
    Mutations in the FKRP (Fukutin Related Protein) gene produce a range of phenotypes including Limb Girdle Muscular Dystrophy Type 2I (LGMD2I)...
  42. ncbi Limb-girdle muscular dystrophies--from genetics to molecular pathology
    S H Laval
    Institute of Human Genetics, International Centre for Life, Newcastle upon Tyne, UK
    Neuropathol Appl Neurobiol 30:91-105. 2004
    ....
  43. ncbi Defective glycosylation in congenital muscular dystrophies
    Francesco Muntoni
    Dubowitz Neuromuscular Unit, Department of Paediatrics, Imperial College of Medicine, Hammersmith Hospital, London, UK
    Curr Opin Neurol 17:205-9. 2004
    ..This article provides an overview of the clinical, biochemical and genetic advances that have been made over the last year in this field...
  44. doi Abnormal vascular development in zebrafish models for fukutin and FKRP deficiency
    Alasdair J Wood
    International Centre for Life, Institute of Genetic Medicine, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK
    Hum Mol Genet 20:4879-90. 2011
    ..Despite anecdotal reports about vascular abnormalities in patients affected by dystroglycanopathies, the clinical relevance of such lesions remains unclear and should be subject to further review and investigations...
  45. ncbi The congenital and limb-girdle muscular dystrophies: sharpening the focus, blurring the boundaries
    Janbernd Kirschner
    Division of Neurology, The Children s Hospital of Philadelphia and University of Pennsylvania School of Medicine, 19104, USA
    Arch Neurol 61:189-99. 2004
    ....
  46. ncbi [Recent advances in congenital muscular dystrophy research]
    Ikuya Nonaka
    National Center Hospital for Mental, Mervous and Muscular Disorders, National Center of Neurology and Psychiatry, Kodaira, Tokyo
    No To Hattatsu 37:115-21. 2005
    ....
  47. ncbi A rapid PCR method for genotyping the Large(myd) mouse, a model of glycosylation-deficient congenital muscular dystrophy
    Claudia A Browning
    Institute of Genetics, Queen s Medical Centre, University of Nottingham, Nottingham NG7 2UH, UK
    Neuromuscul Disord 15:331-5. 2005
    ..Thus, LARGE is a potential therapeutic target. Here, we define the intronic deletion breakpoints of the Large(myd) mutation and describe a simple, PCR-based diagnostic assay, facilitating the study of this important animal model...
  48. ncbi Glycosylation defects: a new mechanism for muscular dystrophy?
    Prabhjit K Grewal
    Institute of Genetics, Queen s Medical Centre, University of Nottingham, Nottingham, UK
    Hum Mol Genet 12:R259-64. 2003
    ..However, it is unlikely that these five glycosylation enzymes only have a role in glycosylation of alpha-dystroglycan and it is important that other protein targets are identified...
  49. pmc Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency
    M Pane
    Department of Paediatric Neurology, Catholic University, Rome, Italy
    Neuromuscul Disord 22:685-9. 2012
    ..Cardiac or respiratory involvement was found in patients with mutations in FKRP, POMT1, POMT2. All of the patients in whom mutation in POMGnT1 were identified had normal cardiac and respiratory function...
  50. ncbi Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients
    Michela Guglieri
    Centro Dino Ferrari, Dipartimento di Scienze Neurologiche, Universita degli Studi di Milano, Milano, Italy
    Hum Mutat 29:258-66. 2008
    ..5%; LGMD2D (alpha-sarcoglycan) 8.4%; LGMD2E (beta-sarcoglycan) 4.5%; LGMD2F (delta-sarcoglycan) 0.7%; LGMD2I (Fukutin-related protein) 6.4%; and undetermined 27.1%...
  51. ncbi Cardiac involvement in limb-girdle muscular dystrophy 2I : conventional cardiac diagnostic and cardiovascular magnetic resonance
    C Gaul
    Department of Neurology, Martin Luther University Halle Wittenberg, Ernst Grube Strasse 40, 06097, Halle Saale
    J Neurol 253:1317-22. 2006
    ..in the fukutin-related protein (FKRP) gene is typically associated with autosomal recessive limb-girdle muscular dystrophy 2I (LGMD2I) but oligosymptomatic phenotypes and patients with predominant cardiac involvement are also described.
  52. doi Genes required for functional glycosylation of dystroglycan are conserved in zebrafish
    Christopher J Moore
    Institute of Genetics, Queen s Medical Centre, University of Nottingham, Nottingham NG7 2UH, UK
    Genomics 92:159-67. 2008
    ..These data indicate that the dystroglycan glycosylation pathway is conserved in zebrafish and suggest this organism is likely to be a useful model system for functional studies...
  53. pmc Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease
    S Saredi
    Division of Neuromuscular Diseases and Neuroimmunology, Foundation Neurological Institute C Besta, Milano, Italy
    J Neurol Sci 318:45-50. 2012
    ..Cerebral MRI is important for identifying MEB and α-dystroglycanopathy phenotypes in children and foetuses, and hence for directing the genetic analysis...
  54. pmc A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severity
    Cecilia Jimenez-Mallebrera
    Dubowitz Neuromuscular Centre, Institute of Child Health and Great Ormond Street Hospital for Children, UCL, London, UK
    Brain Pathol 19:596-611. 2009
    ..These data indicate that it is not always possible to correlate clinical course and alpha-dystroglycan labeling and suggest that there might be differences in alpha-dystroglycan processing in these disorders...
  55. pmc Statistical colocalization of monocyte gene expression and genetic risk variants for type 1 diabetes
    Chris Wallace
    Juvenile Diabetes Research Foundation Wellcome Trust Diabetes and Inflammation Laboratory, Department of Medical Genetics, University of Cambridge, Addenbrooke s Hospital, Cambridge, UK
    Hum Mol Genet 21:2815-24. 2012
    ....
  56. pmc Absence of post-phosphoryl modification in dystroglycanopathy mouse models and wild-type tissues expressing non-laminin binding form of α-dystroglycan
    Atsushi Kuga
    Division of Neurology Molecular Brain Science, Kobe University Graduate School of Medicine, Kobe, Japan
    J Biol Chem 287:9560-7. 2012
    ....
  57. doi Episodes of exercise-induced dark urine and myalgia in LGMD 2I
    C Lindberg
    Department of Clinical Neuroscience and Physiology, Section of Clinical Neuroscience and Rehabilitation, Sahlgrenska University Hospital, Gothenburg, Sweden
    Acta Neurol Scand 125:285-7. 2012
    ..606596) cause a form of congenital muscular dystrophy (MDC1C) and also limb girdle muscular dystrophy type 2I (LGMD2I)...
  58. doi Molecular diagnosis of congenital muscular dystrophies with defective glycosylation of alpha-dystroglycan using next-generation sequencing technology
    Byung Chan Lim
    Department of Pediatrics, Seoul National University College of Medicine, Seoul National University Children s Hospital, Seoul, Republic of Korea
    Neuromuscul Disord 23:337-44. 2013
    ..As suboptimal coverage in a small subset of coding regions may affect the sensitivity of the method, complementary Sanger sequencing may be required...
  59. doi Limb-girdle muscular dystrophy type 2I is not rare in Taiwan
    Wen Chen Liang
    Department of Pediatrics, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung, Taiwan
    Neuromuscul Disord 23:675-81. 2013
    ..Among them, five LGMD patients harbored FKRP mutations leading to the diagnosis of LGMD2I. One common mutation, c.948delC, was identified and cardiomyopathy was found to be very common in our cohort...
  60. pmc Protein turnover and cellular stress in mildly and severely affected muscles from patients with limb girdle muscular dystrophy type 2I
    Simon Hauerslev
    Neuromuscular Research Unit, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark
    PLoS ONE 8:e66929. 2013
    Patients with Limb girdle muscular dystrophy type 2I (LGMD2I) are characterized by progressive muscle weakness and wasting primarily in the proximal muscles, while distal muscles often are spared...
  61. doi POMGnT1, POMT1, and POMT2 mutations in congenital muscular dystrophies
    Tamao Endo
    Molecular Glycobiology, Tokyo Metropolitan Institute of Gerontology, Itabashi ku, Tokyo, Japan
    Methods Enzymol 479:343-52. 2010
    ..This chapter describes the assay protocols to diagnose patients with alpha-dystroglycanopathy by measuring glycosyltransferase activity...
  62. doi Novel POMGnT1 mutations cause muscle-eye-brain disease in Chinese patients
    Hui Jiao
    Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China
    Mol Genet Genomics 288:297-308. 2013
    ....
  63. pmc Dysferlin deficiency shows compensatory induction of Rab27A/Slp2a that may contribute to inflammatory onset
    Akanchha Kesari
    Research Center for Genetic Medicine, Children s National Medical Center, Washington DC 20010, USA
    Am J Pathol 173:1476-87. 2008
    ..muscle mRNA profiles from 10 mutation-positive LGMD2B/MM patients were compared with a disease control [LGMD2I; (n = 9)], and normal muscle samples (n = 11)...
  64. ncbi EMG and nerve conduction studies in children with congenital muscular dystrophy
    Susana Quijano-Roy
    Unité de Neurophysiologie, Hopital d Enfants Armand Trousseau, 28 avenue Arnold Netter, 75571 Paris, France
    Muscle Nerve 29:292-9. 2004
    ..In conclusion, myopathic EMG changes were typical and early findings in all types of CMD. An associated neuropathy was detected in most patients with merosin-deficient CMD, and also in a child with normal merosin expression...
  65. ncbi Cardiac and respiratory failure in limb-girdle muscular dystrophy 2I
    Maja Poppe
    Institute of Human Genetics, University of Newcastle upon Tyne, Newcastle upon Tyne, United Kingdom
    Ann Neurol 56:738-41. 2004
    ..These complications are a primary part of this specific type of limb-girdle muscular dystrophy, with important implications for management...
  66. ncbi [Updates in muscular dystrophies]
    R Erazo-Torricelli
    Servicio de Neuropediatria, Hospital Luis Calvo Mackenna, Santiago de Chile, Chile
    Rev Neurol 39:860-71. 2004
    ..The pathogenia, caused by defectives proteins which disrupt dystrophin-associated-protein complex in most of the dystrophies, has generate a new classification based in protein and genomic defects...
  67. ncbi The phenotype of limb-girdle muscular dystrophy type 2I
    M Poppe
    Institute of Human Genetics, the University Newcastle upon Tyne, UK
    Neurology 60:1246-51. 2003
    Mutations in the fukutin-related protein gene FKRP cause limb-girdle muscular dystrophy (LGMD2I) as well as a form of congenital muscular dystrophy (MDC1C).
  68. ncbi Sub-cellular localisation of fukutin related protein in different cell lines and in the muscle of patients with MDC1C and LGMD2I
    Silvia Torelli
    Dubowitz Neuromuscular Unit, Department of Paediatrics, Imperial College London, Hammersmith Campus, UK
    Neuromuscul Disord 15:836-43. 2005
    ..MDC1C and LGMD2I are two allelic forms of muscular dystrophies caused by mutations in the gene encoding for fukutin related protein (FKRP). FKRP encodes for a putative glycosyltransferase, the precise function of which is unknown...
  69. ncbi Asymptomatic carriers for homozygous novel mutations in the FKRP gene: the other end of the spectrum
    Flavia de Paula
    1Centro de Estudos do Genoma Humano, Instituto de Biociencias, Universidade de Sao Paulo, Sao Paulo, Brazil
    Eur J Hum Genet 11:923-30. 2003
    Autosomal recessive limb-girdle muscular dystrophy linked to 19q13.3 (LGMD2I) was recently related to mutations in the fukutin-related protein gene (FKRP) gene...
  70. ncbi [Limb girdle muscular dystrophies]
    J Finsterer
    Neurologische Abteilung, KA Rudolfstiftung, Wien, Osterreich
    Nervenarzt 75:1153-66. 2004
    ..1, LGMD2H), fukutin-related protein (19q13.3, LGMD2I), and titin (2q31, LGMD2J). Cardiac involvement has been described for LGMD1B-E, LGMD2C-G, and LGMD2I...
  71. pmc SNP-array based whole genome homozygosity mapping: a quick and powerful tool to achieve an accurate diagnosis in LGMD2 patients
    Lea Papić
    Department of Internal Medicine, Division of Diabetes and Metabolism, Medical University of Graz, Auenbruggerplatz 15, 8036 Graz, Austria
    Eur J Med Genet 54:214-9. 2011
    ..However, a mutation in CAV3 could not be detected. Homozygosity mapping revealed a large homozygous block at the LGMD2I locus, and direct sequencing of FKRP encoding fukutin-related-protein detected the common homozygous c...
  72. pmc Post-Natal knockdown of fukutin-related protein expression in muscle by long-termRNA interference induces dystrophic pathology [corrected]
    Chi Hsien Wang
    Division of Molecular Pharmaceutics, Eshelman School of Pharmacy, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina 27599, USA
    Am J Pathol 178:261-72. 2011
    Limb-girdle muscular dystrophy 2I (LGMD2I) is caused by mutations in the fukutin-related protein (FKRP) gene...
  73. doi Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies
    Yiumo Michael Chan
    McColl Lockwood Laboratory for Muscular Dystrophy Research, Neuromuscular ALS Center, Carolinas Medical Center, Charlotte, NC 28231, USA
    Hum Mol Genet 19:3995-4006. 2010
    ..The mutant mouse represents a valuable model to further elucidate the functions of FKRP and develop therapies for FKRP-related muscular dystrophies...
  74. pmc Increased apoptosis of myoblasts in Drosophila model for the Walker-Warburg syndrome
    Morio Ueyama
    Department of Bioinformatics, Soka University, Hachioji, Tokyo, Japan
    PLoS ONE 5:e11557. 2010
    ..In this paper, we propose a novel mechanism for the development of muscular dystrophy: POMT mutation causes high myoblast density and position derangement, which result in apoptosis, muscle disorganization, and muscle cell defects...
  75. pmc Heterozygous deletion of a 2-Mb region including the dystroglycan gene in a patient with mild myopathy, facial hypotonia, oral-motor dyspraxia and white matter abnormalities
    Amy R Frost
    Department of Clinical Genetics, Guy s and St Thomas NHS Foundation Trust, London, UK
    Eur J Hum Genet 18:852-5. 2010
    ....
  76. ncbi LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype
    Marianne Schwartz
    Department of Clinical Genetics, National University Hospital, Rigshospitalet, Copenhagen, Denmark
    Neurology 64:1635-7. 2005
    ..A point mutation, L276I has been found in all patients with LGMD2I studied so far...
  77. pmc POMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome
    J van Reeuwijk
    Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    J Med Genet 42:907-12. 2005
    ..patients, hypoglycosylation results from mutations in either the protein O-mannosyltransferase 1 (POMT1), fukutin, or fukutin related protein (FKRP) genes. The other genes for this highly heterogeneous disorder remain to be identified.
  78. ncbi LAMA2 gene analysis in congenital muscular dystrophy: new mutations, prenatal diagnosis, and founder effect
    Claudia Di Blasi
    Divisions of Neuromuscular Diseases, Istituto Nazionale Neuorlogico C Besta, Bicocca Laboratories, Milano, Italy
    Arch Neurol 62:1582-6. 2005
    ..To determine if laminin-alpha2 deficiency is due to mutations in the LAMA2 gene or secondary to mutations in other congenital muscular dystrophy genes...
  79. pmc Zebrafish models for human FKRP muscular dystrophies
    Genri Kawahara
    Division of Genetics, Program in Genetics, Harvard Medical School, Children s Hospital, Boston, MA, USA
    Hum Mol Genet 19:623-33. 2010
    ..Co-injection of the human FKRP mRNA containing causative mutations found in human patients of WWS, MDC1C and LGMD2I could not restore their phenotypes significantly...
  80. ncbi LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene
    A Saenz
    Unidad Experimental, Hospital Donostia, San Sebastian, Basque Country, Spain
    Brain 128:732-42. 2005
    ..Of the cases where the CAPN3 gene was not affected, approximately 20% were diagnosed as LGMD2I muscular dystrophy, while facioscapulohumeral muscular dystrophy (FSHD) was uncommon in this sample...
  81. doi Cognitive profile and MRI findings in limb-girdle muscular dystrophy 2I
    A Palmieri
    Department of Neurosciences, University of Padua, Via Giustiniani 5, 35121 Padua, Italy
    J Neurol 258:1312-20. 2011
    ..It is caused by mutations in the Fukutin Related Protein (FKRP) gene, which is ubiquitously expressed in human tissues. FKRP functions in CNS are largely unknown...
  82. pmc Zebrafish Fukutin family proteins link the unfolded protein response with dystroglycanopathies
    Yung Yao Lin
    Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK
    Hum Mol Genet 20:1763-75. 2011
    ..Together, our results suggest that Fukutin family proteins may play important roles in protein secretion and that the UPR may contribute to the phenotypic spectrum of some dystroglycanopathies in humans...
  83. ncbi Merosin-deficient congenital muscular dystrophy with mental retardation and cerebellar cysts unlinked to the LAMA2, FCMD and MEB loci
    B Talim
    Department of Pediatric Pathology, Hacettepe Children s Hospital, Ankara, Turkey
    Neuromuscul Disord 10:548-52. 2000
    ..We suggest that this case represents a new entity in the nosology of congenital muscular dystrophy...
  84. ncbi Congenital muscular dystrophy with secondary merosin deficiency and normal brain MRI: a novel entity?
    E Mercuri
    Dubowitz Neuromuscular Centre, Department of Paediatrics, Hammersmith Hospital, London, UK
    Neuropediatrics 31:186-9. 2000
    ..Linkage analysis excluded all the known loci for CMD. We propose that this may represent a novel variant of CMD...
  85. ncbi The gene for a novel glycosyltransferase is mutated in congenital muscular dystrophy MDC1C and limb girdle muscular dystrophy 2I
    Martin Brockington
    Neuromuscul Disord 12:233-4. 2002
  86. ncbi Protein defects in neuromuscular diseases
    M Vainzof
    Centro de Estudos do Genoma Humano, Departamento de Biologia, Instituto de Biociencias, Universidade de Sao Paulo, Sao Paulo, SP, Brasil
    Braz J Med Biol Res 36:543-55. 2003
    ..The main objective of this review is to summarize the most recent findings in the field and our own contribution...
  87. ncbi Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation
    Tamar Harel
    Laboratory of Human Molecular Genetics, Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva, Israel
    Eur J Hum Genet 12:38-43. 2004
    ..been implicated in causing congenital muscular dystrophy 1C (MDC1C), and has recently been shown to be mutated in LGMD2I. We identified a novel missense mutation in exon 4 of the FKRP gene in all the patients studied...
  88. pmc Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies
    Susan C Brown
    Dubowitz Neuromuscular Unit, Department of Paediatrics, Faculty of Medicine, Imperial College, Hammersmith Hospital, London, United Kingdom
    Am J Pathol 164:727-37. 2004
    We recently identified mutations in the fukutin related protein (FKRP) gene in patients with congenital muscular dystrophy type 1C (MDC1C) and limb girdle muscular dystrophy type 2I (LGMD2I)...
  89. ncbi The role of defective glycosylation in congenital muscular dystrophy
    Harry Schachter
    Department of Structural Biology and Biochemistry, The Hospital for Sick Children, 555 University Avenue, Toronto, Ont M5G 1X8, Canada
    Glycoconj J 20:291-300. 2004
    ..It is expected other congenital muscular dystrophies will prove to have mutations in genes involved in glycosylation...
  90. ncbi A single human myosin light chain kinase gene (MLCK; MYLK)
    V Lazar
    Division of Pulmonary and Critical Care Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland 21224, USA
    Genomics 57:256-67. 1999
    ....
  91. doi Fukutin-related protein alters the deposition of laminin in the eye and brain
    Mark R Ackroyd
    Department of Veterinary Basic Sciences, Royal Veterinary College, University of London, London NW1 0TU, UK
    J Neurosci 31:12927-35. 2011
    ....
  92. pmc Fukutin-related protein resides in the Golgi cisternae of skeletal muscle fibres and forms disulfide-linked homodimers via an N-terminal interaction
    Maisoon Alhamidi
    Division of Child and Adolescent Health, Department of Medical Genetics, University Hospital of North Norway, Tromsø, Norway
    PLoS ONE 6:e22968. 2011
    Limb-Girdle Muscular Dystrophy type 2I (LGMD2I) is an inheritable autosomal, recessive disorder caused by mutations in the FuKutin-Related Protein (FKRP) gene (FKRP) located on chromosome 19 (19q13.3)...
  93. pmc Cardiovascular magnetic resonance of cardiomyopathy in limb girdle muscular dystrophy 2B and 2I
    Xiomara Q Rosales
    Center for Gene Therapy, The Research Institute at Nationwide Children s Hospital, Columbus, Ohio 43205, USA
    J Cardiovasc Magn Reson 13:39. 2011
    ..Studies of cardiac function have not yet been well-defined in deficiencies of dysferlin (LGMD2B) and fukutin related protein (LGMD2I)...
  94. ncbi The mildest known case of Fukuyama-type congenital muscular dystrophy
    Tomoyuki Akiyama
    Department of Child Neurology, Okayama University Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama, Japan
    Brain Dev 28:537-40. 2006
    ..Another possibility is the abnormalities in other genes involved in the glycosylation of alpha-dystroglycan, such as Fukutin-related protein and LARGE genes...
  95. doi Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype
    S Vuillaumier-Barrot
    AP HP, Hopital Bichat Claude Bernard, Biochimie Métabolique et Cellulaire, 46 rue Henri Huchard, Paris 75018, France
    Neuromuscul Disord 19:182-8. 2009
    ..Outside Japan, fukutinopathies are associated with a large spectrum of phenotypes from isolated hyperCKaemia to severe CMD, showing a clear overlap with that of FKRP...
  96. ncbi Fukutin-related protein localizes to the Golgi apparatus and mutations lead to mislocalization in muscle in vivo
    Elizabeth Keramaris-Vrantsis
    McColl Lockwood Laboratory for Muscular Dystrophy Research, Neuromuscular ALS Center, Carolinas Medical Center, Charlotte, NC 28231, USA
    Muscle Nerve 36:455-65. 2007
    ..The complexity of the effect of individual missense point mutations may partly explain the wide variation of the FKRP-related myopathies...
  97. doi POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study
    S Messina
    Department of Paediatric Neurology, Catholic University, Policlinico Gemelli, 00168 Rome, Italy
    Neuromuscul Disord 18:565-71. 2008
    ..Our results provide further evidence that, as previously reported for FKRP, the array of mutations in POMT1 and POMT2 is ample and the spectrum of associated phenotypes is wider than initially thought...
  98. doi Developmental defects in a zebrafish model for muscular dystrophies associated with the loss of fukutin-related protein (FKRP)
    Paul Thornhill
    Institute of Human Genetics, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ, UK
    Brain 131:1551-61. 2008
    ..Further characterization of the developmental processes affected in FKRP morphant embryos may lead to a better understanding of the pathological spectrum observed in muscular dystrophies associated with mutations in the human FKRP gene...
  99. doi cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark
    Morten Duno
    Department of Clinical Genetics, University of Copenhagen, Rigshospitalet, Copenhagen, Denmark
    Eur J Hum Genet 16:935-40. 2008
    ..Four of these patients were shown to have LGMD2I upon molecular analysis, whereas 16 of the remaining 42 patients harbored mutations in CAPN3 by both direct ..

Research Grants2

  1. Gene delivery for fukutin-related protein deficiencies.
    Xiao Xiao; Fiscal Year: 2013
    ..The most common form is limb girdle muscular dystrophy 2I (LGMD2I) that manifests cardiomyopathy at later stage...
  2. Gentamicin Trial in Duchenne and Limb Girdle Dystrophies
    Jerry Mendell; Fiscal Year: 2004
    ..Gentamicin will also be used to treat limb girdle muscular dystrophy subjects with stop codon mutations. If the serum CK is lowered, the potential for long-term treatment will be established for these patients. ..