MFSD8

Summary

Gene Symbol: MFSD8
Description: major facilitator superfamily domain containing 8
Alias: CLN7, ceroid-lipofuscinosis neuronal protein 7, ceroid-lipofuscinosis, neuronal 7, late infantile, major facilitator superfamily domain-containing protein 8
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. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. doi 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

Research Grants

Scientific Experts

  • David A Pearce
  • Krystyna E Wisniewski
  • Elisabeth Stogmann
  • Taina H Autti
  • Yan Hua Chen
  • Sara E Mole
  • Pieter Steenhuis
  • Maria Kousi
  • Amanda L Getty
  • Anna Elina Lehesjoki
  • Eija Siintola
  • Meral Topcu
  • A E Lehesjoki
  • Rita Guerreiro
  • Blanka Stiburkova
  • Muhammad Mahajnah
  • María del Socorro Pérez-Poyato
  • R Kohan
  • Stephan Storch
  • A Sharifi
  • Rodney Tatum
  • Chiara Aiello
  • Chiara Vantaggiato
  • M A Aldahmesh
  • Neda E Muzaffar
  • Berge A Minassian
  • S E Mole
  • W A Mitchell
  • E Siintola
  • R B Wheeler
  • Junji Ezaki
  • Susanna Ranta
  • Helena Jahnová
  • Jose T Bras
  • Helena Hulkova
  • Shakti Agrawal
  • Glenn Anderson
  • Lenka Kryspinova
  • Mariana Vieira
  • Varun Warrier
  • Kimiyoshi Ichida
  • Ivan Sebesta
  • Helen Stewart
  • Makiko Nakamura
  • Vladimir Krylov
  • Victoria Cusí-Sánchez
  • Isidre Ferrer-Abizanda
  • Laura Gort
  • Rafael Camino-León
  • Joshua Froemming
  • María Vázquez-López
  • Mercè Pineda-Marfà
  • M Josep Coll-Rosell
  • Thomas Reinheckel
  • Nathanel Zelnik
  • Montserrat Milà-Recasens
  • I A Cismondi
  • Noher I de Halac
  • G Alonso
  • N Guelbert
  • Tapia V Anzolini
  • A M Oller-Ramirez
  • Dodelson R de Kremer
  • G C Bellenchi
  • Beverly G Jeansonne
  • Qun Lu
  • S El Mestikawy
  • Suyin Gelis
  • A Jalanko
  • R Ruivo
  • Lei Ding
  • S L Bate
  • J D Sharp
  • C Debacker
  • Kenneth Salleng
  • Thomas Braulke
  • B Gasnier
  • Zhe Lu
  • A Kyttälä
  • H Hulkova
  • L Morel
  • R M Gardiner
  • R E Williams
  • M Darmon
  • Yuguo Zhang
  • M Kousi
  • M Elleder
  • C Sagne
  • Jen Jar Lin
  • Stephanie Herder

Detail Information

Publications27

  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. 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, ..
  3. 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 ..
  4. 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...
  5. 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...
  6. 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...
  7. 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...
  8. 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)...
  9. 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...
  10. doi 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...
  11. 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)...
  12. 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...
  13. 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 ..
  14. 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...
  15. 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...
  16. 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)...
  17. 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...
  18. 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...
  19. 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...
  20. 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 ..
  21. 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 ..
  22. 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 ..
  23. 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...
  24. 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)...
  25. 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...
  26. 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.

Research Grants30

  1. STUDIES OF YEAST BTNLP AND HUMAN CLN3P IN YEAST
    David Pearce; Fiscal Year: 2006
    ..An understanding of the function of Btnlp (and Cln3p) in yeast could furnish valuable information on Batten's disease in humans. ..
  2. 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. ..
  3. Serum Proteomics for Biomarker Discovery in Batten Disease
    David Pearce; Fiscal Year: 2007
    ..Completion of the proposed studies would likely prove valuable in identification of markers of more complex neurodegenerative diseases ..
  4. Studies of Yeast BTN1P and Human CLN3P in Yeast
    David Pearce; Fiscal Year: 2009
    ..Finally we will characterize the pathway of trafficking Btnlp to the vacuole. Further understanding of Btnlp (and ClnSp) in yeast will provide valuable information on the pathogenesis of Batten disease. ..
  5. The Autoimmune Response of Battens Disease
    David Pearce; Fiscal Year: 2009
    ..PUBLIC HEALTH RELEVANCE: The proposed research is relevant and significant as it has the potential to increase our understanding of Batten's Disease and ultimately impact therapeutic strategies for this disease. ..
  6. The Autoimmune Response in Batten Disease
    David Pearce; Fiscal Year: 2006
    ..iv) characterize cell type specific molecular effects that elevated glutamate and exposure to the autoantibody have on primary neuronal culture from cln3-knockout mice. ..
  7. YEAST BTNLP AND HUMAN CLN3P IN YEAST
    David Pearce; Fiscal Year: 2000
    ..Genetic screens will be done to find other mutants resistant to APN, to find suppressors of btn1, and to find mutations that are synthetically lethal with btn1. ..
  8. RETINAL CELL MODEL FOR BATTEN DISEASE
    David Pearce; Fiscal Year: 2002
    ....
  9. Studies of Yeast BTN1P and Human CLN3P in Yeast
    David Pearce; Fiscal Year: 2009
    ..Finally we will characterize the pathway of trafficking Btnlp to the vacuole. Further understanding of Btnlp (and ClnSp) in yeast will provide valuable information on the pathogenesis of Batten disease. ..
  10. The Function of Claudin-7 in Renal Epithelial Cells
    Yan Hua Chen; Fiscal Year: 2010
    ..Claudin-7 knockout mice (Cln7-/-) display salt wasting and water loss phenotypes, suggesting the impairment of ion reabsorption in renal tubules...
  11. The Function of Claudin-7 in Renal Epithelial Cells
    Yan Hua Chen; Fiscal Year: 2009
    ..Claudin-7 knockout mice (Cln7-/-) display salt wasting and water loss phenotypes, suggesting the impairment of ion reabsorption in renal tubules...