MFSD8

Summary

Gene Symbol: MFSD8
Description: major facilitator superfamily domain containing 8
Alias: CCMD, CLN7, major facilitator superfamily domain-containing protein 8, ceroid-lipofuscinosis, neuronal 7, late infantile
Species: human

Top Publications

  1. pmc Analysis of NCL Proteins from an Evolutionary Standpoint
    Neda E Muzaffar
    Center for Neural Development and Disease, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA
    Curr Genomics 9:115-36. 2008
  2. doi [Clinical, genetic and pathological features of neuronal ceroid lipofuscinosis in 5 Chinese patients]
    S C Ren
    Department of Pediatric, Beijing Tiantan Hospital, Capital Medical University, Beijing 100050, China
    Zhonghua Yi Xue Za Zhi 96:3504-3507. 2016
  3. doi Gene disruption of Mfsd8 in mice provides the first animal model for CLN7 disease
    Markus Damme
    Biochemistry I, Department of Chemistry, Bielefeld University, 33615 Bielefeld, Germany Electronic address
    Neurobiol Dis 65:12-24. 2014
  4. doi Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy
    Susanne Roosing
    Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen, The Netherlands Current affiliation Howard Hughes Medical Institute, The Rockefeller University, Department for Pediatric Brain Diseases, New York, New York
    Ophthalmology 122:170-9. 2015
  5. doi Clinico-pathological manifestations of variant late infantile neuronal ceroid lipofuscinosis (vLINCL) caused by a novel mutation in MFSD8 gene
    Hanna Mandel
    Metabolic Unit, Rambam Medical Center, Israel Rappaport School of Medicine, Technion Haifa, Israel
    Eur J Med Genet 57:607-12. 2014
  6. pmc Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis
    Liliana Catherine Patiño
    Unidad de Genetica, Grupo GENIUROS, Escuela de Medicina y Ciencias de la Salud, Universidad del Rosario, Bogota, Colombia
    PLoS ONE 9:e109576. 2014
  7. doi Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the MFSD8 gene and review of the literature data on clinical onset signs
    Dana Craiu
    Carol Davila University of Medicine Bucharest, Department of Neurology, Pediatric Neurology, Psychiatry, Neurosurgery, Discipline Pediatric Neurology, Romania Pediatric Neurology Clinic, Alexandru Obregia Clinical Psychiatric Hospital, Şos Berceni 10 12, Sector 4, Bucharest, Romania Electronic address
    Eur J Paediatr Neurol 19:78-86. 2015
  8. pmc A rare homozygous MFSD8 single-base-pair deletion and frameshift in the whole genome sequence of a Chinese Crested dog with neuronal ceroid lipofuscinosis
    Juyuan Guo
    Department of Veterinary Pathobiology, College of Veterinary Medicine, University of Missouri, Columbia, MO, USA
    BMC Vet Res 10:960. 2015
  9. doi Cell biology of the NCL proteins: What they do and don't do
    Jaime Carcel-Trullols
    Sanford Children s Health Research Center, Sanford Research, Sioux Falls, SD, 57104, USA
    Biochim Biophys Acta 1852:2242-55. 2015
  10. pmc Genetics of the neuronal ceroid lipofuscinoses (Batten disease)
    Sara E Mole
    MRC Laboratory for Molecular Cell Biology, University College London, Gower Street, London, WC1E 6BT, UK UCL Institute of Child Health and Department of Genetics, Evolution and Environment, University College London, London WC1E 6BT, UK Electronic address
    Biochim Biophys Acta 1852:2237-41. 2015

Research Grants

Scientific Experts

  • Sara Mole
  • Dana Craiu
  • Robert J Huber
  • Krystyna E Wisniewski
  • Elisabeth Stogmann
  • David A Pearce
  • Taina H Autti
  • Yan Hua Chen
  • Stephan Storch
  • Laura Brandenstein
  • Pieter Steenhuis
  • Maria Kousi
  • Amanda L Getty
  • Juyuan Guo
  • Wanda Jankowiak
  • Anna Elina Lehesjoki
  • Eija Siintola
  • Akanksha Ashwini
  • S C Ren
  • Kiterie M E Faller
  • Gary S Johnson
  • Martin L Katz
  • Tendai Mhlanga-Mutangadura
  • Jaime Carcel-Trullols
  • Meral Topcu
  • Udo Bartsch
  • Susanne Roosing
  • Michaela Schweizer
  • Liliana Catherine Patiño
  • Markus Damme
  • Hanna Mandel
  • Rita Guerreiro
  • Blanka Stiburkova
  • A E Lehesjoki
  • Muhammad Mahajnah
  • María del Socorro Pérez-Poyato
  • R Kohan
  • A Sharifi
  • Rodney Tatum
  • Chiara Aiello
  • M A Aldahmesh
  • Chiara Vantaggiato
  • Neda E Muzaffar
  • Berge A Minassian
  • W A Mitchell
  • E Siintola
  • R B Wheeler
  • Susanna Ranta
  • Junji Ezaki
  • Y L Sun
  • Osamu Yamato
  • Cristina Giordano
  • Rodrigo Gutierrez-Quintana
  • Jan Sedlacik
  • Z X Tian
  • Tom Harcourt-Brown
  • Antonio D'Angelo
  • B Q Gao
  • Simon Dulz
  • Jose Bras
  • Célia Kun-Rodrigues
  • Jens Fiehler
  • Giulia Cagnotti
  • Glenn W Anderson
  • Y J Wang
  • Rita J Guerreiro
  • X J Wu
  • Christian Hagel
  • Jacques Penderis
  • Joseph Alroy
  • Samuel J Sharpe
  • Lee Darwent
  • Frans P M Cremers
  • Robert K Koenekoop
  • DENNIS P O'BRIEN
  • Carel B Hoyng
  • Sandro Banfi
  • Jeremy F Taylor
  • Robert D Schnabel
  • Marijke N Zonneveld-Vrieling
  • Janneke J C van Lith-Verhoeven
  • Natasha J Olby
  • L Ingeborgh van den Born
  • Caroline C W Klaver
  • Riccardo Sangermano
  • Attila D Kovács
  • Anneke I den Hollander
  • Umashankar Renukaradhya
  • Margarita Indelman
  • Irm Hermans-Borgmeyer

Detail Information

Publications41

  1. pmc Analysis of NCL Proteins from an Evolutionary Standpoint
    Neda E Muzaffar
    Center for Neural Development and Disease, University of Rochester School of Medicine and Dentistry, Rochester, NY 14642, USA
    Curr Genomics 9:115-36. 2008
    ..analysis of the human protein sequences for each of the eight known NCL proteins- CLN1, CLN2, CLN3, CLN5, CLN6, CLN7, CLN8 and CLN10...
  2. doi [Clinical, genetic and pathological features of neuronal ceroid lipofuscinosis in 5 Chinese patients]
    S C Ren
    Department of Pediatric, Beijing Tiantan Hospital, Capital Medical University, Beijing 100050, China
    Zhonghua Yi Xue Za Zhi 96:3504-3507. 2016
    ..The confirmed mutations included c. 1153G >C (p.Gly385Arg) MFSD8 homozygous mutation, c 321-1G >A CLN5 intron splice site homozygous mutation and c 407G >A (p...
  3. doi Gene disruption of Mfsd8 in mice provides the first animal model for CLN7 disease
    Markus Damme
    Biochemistry I, Department of Chemistry, Bielefeld University, 33615 Bielefeld, Germany Electronic address
    Neurobiol Dis 65:12-24. 2014
    Mutations in the major facilitator superfamily domain containing 8 (MFSD8) gene coding for the lysosomal CLN7 membrane protein result in CLN7 disease, a lysosomal storage disease of childhood...
  4. doi Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy
    Susanne Roosing
    Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands Radboud Institute for Molecular Life Sciences, Radboud University Nijmegen, Nijmegen, The Netherlands Current affiliation Howard Hughes Medical Institute, The Rockefeller University, Department for Pediatric Brain Diseases, New York, New York
    Ophthalmology 122:170-9. 2015
    ..This study aimed to identify the genetic defects in 2 families with autosomal recessive macular dystrophy with central cone involvement...
  5. doi Clinico-pathological manifestations of variant late infantile neuronal ceroid lipofuscinosis (vLINCL) caused by a novel mutation in MFSD8 gene
    Hanna Mandel
    Metabolic Unit, Rambam Medical Center, Israel Rappaport School of Medicine, Technion Haifa, Israel
    Eur J Med Genet 57:607-12. 2014
    ..combination of whole genome autozygosity mapping and candidate gene direct sequencing, we identified a mutation in MFSD8, c.472G>A (p.Gly158Ser), which was found to segregate with the disease phenotype in the family...
  6. pmc Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis
    Liliana Catherine Patiño
    Unidad de Genetica, Grupo GENIUROS, Escuela de Medicina y Ciencias de la Salud, Universidad del Rosario, Bogota, Colombia
    PLoS ONE 9:e109576. 2014
    ..The variant late-infantile form of the disease has been linked to CLN5, CLN6, CLN7 (MFSD8) and CLN8 mutations...
  7. doi Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the MFSD8 gene and review of the literature data on clinical onset signs
    Dana Craiu
    Carol Davila University of Medicine Bucharest, Department of Neurology, Pediatric Neurology, Psychiatry, Neurosurgery, Discipline Pediatric Neurology, Romania Pediatric Neurology Clinic, Alexandru Obregia Clinical Psychiatric Hospital, Şos Berceni 10 12, Sector 4, Bucharest, Romania Electronic address
    Eur J Paediatr Neurol 19:78-86. 2015
    We present clinical and molecular findings of a patient with ceroid-lipofuscinosis CLN7, with a compound heterozygous mutation of the MFSD8 gene, with Rett syndrome clinical signs onset and a later development of full picture of vLINCL.
  8. pmc A rare homozygous MFSD8 single-base-pair deletion and frameshift in the whole genome sequence of a Chinese Crested dog with neuronal ceroid lipofuscinosis
    Juyuan Guo
    Department of Veterinary Pathobiology, College of Veterinary Medicine, University of Missouri, Columbia, MO, USA
    BMC Vet Res 10:960. 2015
    ....
  9. doi Cell biology of the NCL proteins: What they do and don't do
    Jaime Carcel-Trullols
    Sanford Children s Health Research Center, Sanford Research, Sioux Falls, SD, 57104, USA
    Biochim Biophys Acta 1852:2242-55. 2015
    ..NCL-associated proteins have been localized mostly in lysosomes (CLN1, CLN2, CLN3, CLN5, CLN7, CLN10, CLN12 and CLN13) but also in the Endoplasmic Reticulum (CLN6 and CLN8), or in the cytosol associated to ..
  10. pmc Genetics of the neuronal ceroid lipofuscinoses (Batten disease)
    Sara E Mole
    MRC Laboratory for Molecular Cell Biology, University College London, Gower Street, London, WC1E 6BT, UK UCL Institute of Child Health and Department of Genetics, Evolution and Environment, University College London, London WC1E 6BT, UK Electronic address
    Biochim Biophys Acta 1852:2237-41. 2015
    ..with membranes (CLN4, CLN14), and many transmembrane proteins with different subcellular locations (CLN3, CLN6, CLN7, CLN8, CLN12). For most NCLs, the function of the causative gene has not been fully defined...
  11. doi Lysosomal dysfunction and impaired autophagy in a novel mouse model deficient for the lysosomal membrane protein Cln7
    Laura Brandenstein
    Department of Biochemistry, Children s Hospital
    Hum Mol Genet 25:777-91. 2016
    ..We have disrupted the Cln7/Mfsd8 gene in mice by targeted deletion of exon 2 generating a novel knockout (KO) mouse model for CLN7 disease, which ..
  12. doi The Chihuahua dog: A new animal model for neuronal ceroid lipofuscinosis CLN7 disease?
    Kiterie M E Faller
    School of Veterinary Medicine, College of Medical, Veterinary, and Life Sciences, University of Glasgow, Glasgow, United Kingdom
    J Neurosci Res 94:339-47. 2016
    ..in the coding region or splicing regions of four previously known NCL genes (CLN6, ARSG, CLN2 [=TPP1], and CLN7 [=MFSD8])...
  13. doi Neuronal ceroid lipofuscinosis associated with an MFSD8 mutation in Chihuahuas
    Akanksha Ashwini
    Department of Veterinary Pathobiology, University of Missouri, Columbia MO, USA
    Mol Genet Metab 118:326-32. 2016
    ..All 4 dogs were homozygous for the MFSD8 single base pair deletion (MFSD8:c...
  14. doi Retinal Degeneration in Mice Deficient in the Lysosomal Membrane Protein CLN7
    Wanda Jankowiak
    Department of Ophthalmology, University Medical Center Hamburg Eppendorf, Hamburg, Germany
    Invest Ophthalmol Vis Sci 57:4989-4998. 2016
    ..Here, we performed a detailed analysis of retinal degeneration in mice deficient in the lysosomal membrane protein CLN7, a novel animal model of CLN7 disease.
  15. pmc Using the social amoeba Dictyostelium to study the functions of proteins linked to neuronal ceroid lipofuscinosis
    Robert J Huber
    Department of Biology, Trent University, 2140 East Bank Drive, Peterborough, ON, K9J 7B8, Canada
    J Biomed Sci 23:83. 2016
    ..secretory pathway (PGRN/CLN11), and several proteins that display different subcellular localizations (CLN3, CLN6, MFSD8/CLN7, CLN8, ATP13A2/CLN12)...
  16. ncbi The intracellular location and function of proteins of neuronal ceroid lipofuscinoses
    Junji Ezaki
    Department of Biochemistry, Juntendo University School of Medicine, 2 1 1 Hongo, Bunkyo ku, Tokyo 11 3 8421, Japan
    Brain Pathol 14:77-85. 2004
    ..NCLs are caused by at least 8 mutant genes (CLN1-CLN8), though CLN4 and CLN7 have not yet been identified...
  17. pmc CLN6 disease caused by the same mutation originating in Pakistan has varying pathology
    Rita Guerreiro
    Department of Molecular Neuroscience, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK
    Eur J Paediatr Neurol 17:657-60. 2013
    ..The observed pathology of one proband resembled condensed fingerprints, previously described in late infantile CLN7 and CLN8 diseases, and pathology from the second proband was thought to be absent even after repeated skin biopsy, ..
  18. doi Diagnosis of neuronal ceroid lipofuscinosis: mutation detection strategies
    Amanda L Getty
    University of Rochester School of Medicine and Dentistry, Center for Neural Development and Disease, Aab Institute of Biomedical Sciences, Box 645, Rochester, New York 14642, USA 1 585 506 1972
    Expert Opin Med Diagn 1:351-62. 2007
    ..and adult-onset) and by the gene bearing mutations (CLN10/CTSD, CLN1/PPT1, CLN2/TPP1, CLN3, CLN5, CLN6, CLN7/MFSD8 and CLN8)...
  19. pmc Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis
    Blanka Stiburkova
    Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Prague, Czech Republic
    Eur J Hum Genet 21:1067-73. 2013
    ..visual failure supported suspicion of neuronal ceroid lipofuscinosis type 7 conditioned by the mutation in the MFSD8 gene. Functional studies showed significantly decreased urate uptake and a mis-localized URAT1 signal in p...
  20. doi Phenotypic heterogeneity in consanguineous patients with a common CLN8 mutation
    Muhammad Mahajnah
    Child Neurology and Development Center, Hilel Yaffe Medical Center Hadera, Rappaport Faculty of Medicine, Technion, Haifa, Israel
    Pediatr Neurol 47:303-5. 2012
    ..the late infantile variant, which, in addition to the classic CLN2, was reported in children with CLN5, CLN6, CLN7/MFSD8, and CLN8 genes...
  21. ncbi [Neuronal ceroid lipofuscinosis: diagnostic algorithm and clinical description of the Finnish (CLN5) and Turkish (CLN7) variants late infantile]
    María del Socorro Pérez-Poyato
    Servicio de Neurología Pediátrica, Hospital Sant Joan de Deu, Esplugues de Llobregat, Barcelona, Espana
    Rev Neurol 54:544-50. 2012
    ..The variant late infantile forms (CLN5, CLN6, CLN7 and CLN8) are characterized by a wide variability of the clinical phenotypes and the most patients are originated ..
  22. doi Proteolytic cleavage of the disease-related lysosomal membrane glycoprotein CLN7
    Pieter Steenhuis
    Department of Biochemistry, Children s Hospital, University Medical Center Hamburg Eppendorf, D 20246 Hamburg, Germany
    Biochim Biophys Acta 1822:1617-28. 2012
    b>CLN7 is a polytopic lysosomal membrane glycoprotein of unknown function and is deficient in variant late infantile neuronal ceroid lipofuscinosis...
  23. doi Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses
    Maria Kousi
    Folkhalsan Institute of Genetics, Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland
    Hum Mutat 33:42-63. 2012
    ..Mutations in eight genes (PPT1/CLN1, TPP1/CLN2, CLN3, CLN5, CLN6, MFSD8/CLN7, CLN8) have been identified and several more are predicted to exist, including two provisionally named CLN4 ..
  24. doi Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis
    Maria Kousi
    Folkhalsan Institute of Genetics, Department of Medical Genetics and Neuroscience Center, University of Helsinki, Finland
    Brain 132:810-9. 2009
    ..the genetic background underlying vLINCL in 119 patients, and specifically analysed the recently reported CLN7/MFSD8 gene for mutations in 80 patients. Clinical data were collected from the CLN7/MFSD8 mutation positive patients...
  25. ncbi Neuronal ceroid lipofuscinoses: classification and diagnosis
    K E Wisniewski
    Department of Pathological Neurobiology, New York State Institute for Basic Research in Developmental Disabilities, Staten Island 10314, USA
    Adv Genet 45:1-34. 2001
    ..Two other genes, CLN6 and CLN7, have been assigned recently to small chromosomal regions...
  26. ncbi Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8
    W A Mitchell
    Department of Paediatrics and Child Health, University College London, UK
    Eur J Paediatr Neurol 5:21-7. 2001
    ..form of late infantile neuronal ceroid lipofuscinosis (LINCL) is found predominantly within the Turkish population (CLN7). Exclusion mapping showed that CLN7 was not an allelic variant of known NCL loci (CLN1, CLN2, CLN3, CLN5 or CLN6)...
  27. ncbi Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy
    Susanna Ranta
    Folkhälsan Institute of Genetics and Department of Medical Genetics, Biomedicum Helsinki, University of Helsinki, Finland
    Hum Mutat 23:300-5. 2004
    ..in Turkish patients has been considered a distinct clinical and genetic entity among the NCL, the underlying gene (CLN7) being unknown...
  28. ncbi Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin
    E Siintola
    Folkhalsan Institute of Genetics, Department of Medical Genetics and Neuroscience Center, Biomedicum Helsinki, University of Helsinki, Finland
    Clin Genet 68:167-73. 2005
    ..form of LINCL (vLINCL) present in Turkish patients has been considered a distinct clinical and genetic entity (CLN7). However, we recently showed that mutations in the CLN8 gene account for a subset of Turkish vLINCL...
  29. ncbi Decreased T2 signal in the thalami may be a sign of lysosomal storage disease
    Taina Autti
    Helsinki Medical Imaging Center, Helsinki University Central Hospital, P O Box 340, 00029 HUS, Helsinki, Finland
    Neuroradiology 49:571-8. 2007
    ..Lysosomal disorders are rare and are caused by genetically transmitted lysosomal enzyme deficiencies. A decreased T2 signal in the thalamus has occasionally been reported...
  30. pmc The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter
    Eija Siintola
    Folkhalsan Institute of Genetics, Biomedicum Helsinki, P O Box 63 Haartmaninkatu 8, 00014 University of Helsinki, Helsinki, Finland
    Am J Hum Genet 81:136-46. 2007
    ..1-q28.2 in five families. We identified six different mutations in the MFSD8 gene (previously denoted "MGC33302"), which encodes a novel polytopic 518-amino acid membrane protein that belongs ..
  31. doi A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis
    E Stogmann
    Department of Neurology, General Hospital, Medical University of Vienna, Vienna, Austria
    Neurogenetics 10:73-7. 2009
    ..We performed a genome-wide linkage analysis followed by sequencing the recently described NCL gene MFSD8 in three affected and three unaffected members of a consanguineous Egyptian family with an autosomal recessively ..
  32. doi Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis
    Chiara Aiello
    Molecular Medicine, Neurology, Radiology, and Pathology, IRCCS Bambino Gesù Hospital, Rome, Italy
    Hum Mutat 30:E530-40. 2009
    ..The recent identification of the MFSD8/CLN7 gene in a variant-late infantile form of NCL (v-LINCL) in affected children from Turkey prompted us to ..
  33. ncbi A new locus for variant late infantile neuronal ceroid lipofuscinosis-CLN7
    R B Wheeler
    Department of Paediatrics, University College London Medical School, The Rayne Institute, University Street, London, WC1E 6JJ, United Kingdom
    Mol Genet Metab 66:337-8. 1999
    ..These families appear to represent a new locus. Homozygosity mapping is being used to map this locus, which has been designated CLN7.
  34. doi Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging
    M A Aldahmesh
    Developmental Genetics Unit, Department of Genetics, King Faisal Specialist Hospital and Research Center, MBC 03, P O Box 3354, Riyadh, 11211, Saudi Arabia
    Neurogenetics 10:307-11. 2009
    ..that the disease in this family is due to a homozygous novel mutation in the most recently described NCL gene (MFSD8)...
  35. doi A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function
    Chiara Vantaggiato
    Laboratory of Molecular Biology, E Medea Scientific Institute, Lecco, Italy
    Hum Mutat 30:1104-16. 2009
    ..recessive neuronal ceroid lipofuscinoses (NCLs), with causative mutations found in CLN1, CLN2, CLN5, CLN6, CLN7 (MFSD8), and CLN8 genes...
  36. pmc Renal salt wasting and chronic dehydration in claudin-7-deficient mice
    Rodney Tatum
    Dept of Anatomy and Cell Biology, Brody School of Medicine at East Carolina Univ, Greenville, NC 27834
    Am J Physiol Renal Physiol 298:F24-34. 2010
    ..To investigate the role of claudin-7 in vivo, we generated claudin-7 knockout mice (Cln7(-/-)) by the gene-targeting deletion method...
  37. doi Lysosomal targeting of the CLN7 membrane glycoprotein and transport via the plasma membrane require a dileucine motif
    Pieter Steenhuis
    Department of Biochemistry, Children s Hospital, University Medical Center Hamburg Eppendorf, Martinistr 52, D 20246 Hamburg, Germany
    Traffic 11:987-1000. 2010
    b>CLN7 is a polytopic lysosomal membrane protein deficient in variant late infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder...
  38. pmc Interactions of the proteins of neuronal ceroid lipofuscinosis: clues to function
    Amanda L Getty
    Sanford Children s Health Research Center, Sanford Research USD, Sanford School of Medicine of the University of South Dakota, 2301 East 60th Street North, Sioux Falls, SD 57104 0589, USA
    Cell Mol Life Sci 68:453-74. 2011
    ..NCL (cathepsin D, PPT1, and TPP1), the primary function of the other proteins defective in NCLs (CLN3, CLN5, CLN6, CLN7, and CLN8) remain poorly defined...
  39. pmc Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis
    A Sharifi
    Institut de Biologie Physico Chimique, Universite Paris Descartes, Centre National de la Recherche Scientifique, UMR 8192, Institut de Biologie Physico Chimique, 13 rue P et M Curie, Paris, France
    Hum Mol Genet 19:4497-514. 2010
    ..Mutations in the most recently identified NCL gene, MFSD8/CLN7, underlie a variant of late-infantile NCL (vLINCL)...
  40. pmc Therapeutic approaches to the challenge of neuronal ceroid lipofuscinoses
    R Kohan
    Center for the Study of Inherited Metabolic Diseases CEMECO, Children s Hospital, Department of Medical Sciences, National University Cordoba, Argentina
    Curr Pharm Biotechnol 12:867-83. 2011
    ..Eight causal genes, CLN10/CTSD, CLN1/PPT1, CLN2/TPP1, CLN3, CLN5, CLN6, CLN7/MFSD8, CLN8, with more than 265 mutations and 38 polymorphisms (http://www.ucl.ac.uk/ncl) have been described...

Research Grants5

  1. Roles of Claudin-7 in Lung Cancer
    Yan Hua Chen; Fiscal Year: 2009
    ..To investigate environmental carcinogens on the growth of lung carcinoma in vivo and on tumor-host interactions in Cln7 mice...
  2. The Function of Claudin-7 in Renal Epithelial Cells
    Yan Hua Chen; Fiscal Year: 2012
    ..Claudin-7 knockout mice (Cln7-/-) display salt wasting and water loss phenotypes, suggesting the impairment of ion reabsorption in renal tubules...
  3. RETINAL CELL MODEL FOR BATTEN DISEASE
    David Pearce; Fiscal Year: 2002
    ....
  4. 11th International Congress on Neuronal Ceroid Lipofuscinosis
    David Pearce; Fiscal Year: 2007
    ..The Congress will aid interactions of researchers that will hopefully expedite a greater understanding for these diseases. [unreadable] [unreadable] [unreadable]..
  5. Serum Proteomics for Biomarker Discovery in Batten Disease
    David Pearce; Fiscal Year: 2008
    ..Completion of the proposed studies would likely prove valuable in identification of markers of more complex neurodegenerative diseases [unreadable] [unreadable] [unreadable] [unreadable]..