Genomes and Genes
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
- Analysis of NCL Proteins from an Evolutionary StandpointNeda 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...
- [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...
- Gene disruption of Mfsd8 in mice provides the first animal model for CLN7 diseaseMarkus Damme
Biochemistry I, Department of Chemistry, Bielefeld University, 33615 Bielefeld, Germany Electronic address
Neurobiol Dis 65:12-24. 2014Mutations 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...
- Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophySusanne 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...
- Clinico-pathological manifestations of variant late infantile neuronal ceroid lipofuscinosis (vLINCL) caused by a novel mutation in MFSD8 geneHanna 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...
- Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosisLiliana 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...
- 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 signsDana 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. 2015We 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.
- A rare homozygous MFSD8 single-base-pair deletion and frameshift in the whole genome sequence of a Chinese Crested dog with neuronal ceroid lipofuscinosisJuyuan Guo
Department of Veterinary Pathobiology, College of Veterinary Medicine, University of Missouri, Columbia, MO, USA
BMC Vet Res 10:960. 2015....
- Cell biology of the NCL proteins: What they do and don't doJaime 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 ..
- 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...
- Lysosomal dysfunction and impaired autophagy in a novel mouse model deficient for the lysosomal membrane protein Cln7Laura 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 ..
- 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])...
- Neuronal ceroid lipofuscinosis associated with an MFSD8 mutation in ChihuahuasAkanksha 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...
- Retinal Degeneration in Mice Deficient in the Lysosomal Membrane Protein CLN7Wanda 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.
- Using the social amoeba Dictyostelium to study the functions of proteins linked to neuronal ceroid lipofuscinosisRobert 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)...
- The intracellular location and function of proteins of neuronal ceroid lipofuscinosesJunji 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...
- CLN6 disease caused by the same mutation originating in Pakistan has varying pathologyRita 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, ..
- Diagnosis of neuronal ceroid lipofuscinosis: mutation detection strategiesAmanda 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)...
- Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysisBlanka 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...
- Phenotypic heterogeneity in consanguineous patients with a common CLN8 mutationMuhammad 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...
- [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 ..
- Proteolytic cleavage of the disease-related lysosomal membrane glycoprotein CLN7Pieter Steenhuis
Department of Biochemistry, Children s Hospital, University Medical Center Hamburg Eppendorf, D 20246 Hamburg, Germany
Biochim Biophys Acta 1822:1617-28. 2012b>CLN7 is a polytopic lysosomal membrane glycoprotein of unknown function and is deficient in variant late infantile neuronal ceroid lipofuscinosis...
- Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinosesMaria 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 ..
- Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosisMaria 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...
- Neuronal ceroid lipofuscinoses: classification and diagnosisK 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...
- Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8W 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)...
- Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsySusanna 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...
- Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish originE 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...
- Decreased T2 signal in the thalami may be a sign of lysosomal storage diseaseTaina 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...
- The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporterEija 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 ..
- A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosisE 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 ..
- Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosisChiara 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 ..
- A new locus for variant late infantile neuronal ceroid lipofuscinosis-CLN7R 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.
- Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emergingM 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)...
- A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological functionChiara 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...
- Renal salt wasting and chronic dehydration in claudin-7-deficient miceRodney 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...
- Lysosomal targeting of the CLN7 membrane glycoprotein and transport via the plasma membrane require a dileucine motifPieter Steenhuis
Department of Biochemistry, Children s Hospital, University Medical Center Hamburg Eppendorf, Martinistr 52, D 20246 Hamburg, Germany
Traffic 11:987-1000. 2010b>CLN7 is a polytopic lysosomal membrane protein deficient in variant late infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder...
- Interactions of the proteins of neuronal ceroid lipofuscinosis: clues to functionAmanda 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...
- Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosisA 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)...
- Therapeutic approaches to the challenge of neuronal ceroid lipofuscinosesR 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...
- Roles of Claudin-7 in Lung CancerYan 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...
- The Function of Claudin-7 in Renal Epithelial CellsYan 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...
- RETINAL CELL MODEL FOR BATTEN DISEASEDavid Pearce; Fiscal Year: 2002....
- 11th International Congress on Neuronal Ceroid LipofuscinosisDavid Pearce; Fiscal Year: 2007..The Congress will aid interactions of researchers that will hopefully expedite a greater understanding for these diseases. [unreadable] [unreadable] [unreadable]..
- Serum Proteomics for Biomarker Discovery in Batten DiseaseDavid 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]..