SH3TC2

Summary

Gene Symbol: SH3TC2
Description: SH3 domain and tetratricopeptide repeats 2
Alias: CMT4C, MNMN, SH3 domain and tetratricopeptide repeat-containing protein 2, SH3 domain and tetratricopeptide repeats-containing protein 2
Species: human

Top Publications

  1. ncbi [Molecular genetics of inherited neuropathies]
    Hiroshi Takashima
    Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences
    Rinsho Shinkeigaku 46:1-18. 2006
  2. ncbi Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2
    Jaume Colomer
    Servei de Neurologia, Hospital Sant Joan de Deu, Barcelona, Spain
    Neuromuscul Disord 16:449-53. 2006
  3. ncbi Schwann cells and the pathogenesis of inherited motor and sensory neuropathies (Charcot-Marie-Tooth disease)
    Philipp Berger
    Institute of Cell Biology, Department of Biology, ETH Zurich, Zurich, Switzerland
    Glia 54:243-57. 2006
  4. doi BAG3 mutations: another cause of giant axonal neuropathy
    Fatima Jaffer
    MRC Centre for Neuromuscular Diseases, Department of Molecular Neurosciences, UCL Institute of Neurology and the National Hospital for Neurology and Neurosurgery, London, UK
    J Peripher Nerv Syst 17:210-6. 2012
  5. doi Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4C
    Marion Yger
    APHP, Center for reference of neuromuscular diseases Paris Est, Institut de Myologie, Hopital de la Pitie Salpetriere, 47 83 boulevard de l Hopital, Paris, France
    J Peripher Nerv Syst 17:112-22. 2012
  6. pmc SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease
    Carina Fischer
    Center for Medical Research, Medical University of Graz, Graz, Austria
    J Neurol 259:515-23. 2012
  7. doi High frequency of SH3TC2 mutations in Czech HMSN I patients
    P Lassuthová
    DNA Laboratory, Department of Child Neurology, 2nd Medical School, University Hospital Motol, Prague, Czech Republic
    Clin Genet 80:334-45. 2011
  8. ncbi Gene symbol: SH3TC2. Disease: Charcot-Marie-Tooth type 4C
    Carmen Espinos
    CIBER de Enfermedades Raras CIBERER, Genetics and Molecular Medicine, Instituto de Biomedicina de Valencia, CSIC, C Jaume Roig, 11, 46010 Valencia, Spain
    Hum Genet 124:320. 2008
  9. ncbi Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease
    O Dubourg
    INSERM U679 ex U289, La Pitie Salpetriere Hospital, AP HP, Paris, France
    Neuromolecular Med 8:75-86. 2006
  10. doi Clinical, in silico, and experimental evidence for pathogenicity of two novel splice site mutations in the SH3TC2 gene
    Petra Lassuthová
    DNA Laboratory, Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
    J Neurogenet 26:413-20. 2012

Scientific Experts

  • Petra Lassuthová
  • Jean Michel Vallat
  • Meriem Tazir
  • H Azzedine
  • Nilufer Sahin-Calapoğlu
  • Rhys C Roberts
  • R Kikuno
  • John B Vincent
  • H Houlden
  • Jan Senderek
  • C Espinos
  • Kamel Ben Othmane
  • Yesim Parman
  • T Sevilla
  • Roman Chrast
  • Vincenzo Lupo
  • Claudia Stendel
  • Estelle Arnaud
  • Hiroshi Takashima
  • Ueli Suter
  • Makiko Hayashi
  • Dana Gabrikova
  • A Lacour
  • Estelle Arnaud Gouttenoire
  • Masahiro Iguchi
  • Marion Yger
  • Fatima Jaffer
  • Carina Fischer
  • Michaela Auer-Grumbach
  • Fanny Schüpfer
  • Günther Bernert
  • Jonathan Baets
  • Francesc Palau
  • Jean Jacques Medard
  • James R Lupski
  • J M Millan
  • F Palau
  • Andreas Roos
  • Henning Kleine
  • Bernhard Luscher
  • Jennifer Zenker
  • Benoit Funalot
  • J Colomer
  • Isabelle Gosselin
  • Li Wang
  • D Kabzinska
  • Birdal Bilir
  • Peter De Jonghe
  • Esra Battaloglu
  • Eric LeGuern
  • Vincent Timmerman
  • R Claramunt
  • O Dubourg
  • Philipp Berger
  • Jaume Colomer
  • R Gooding
  • E LeGuern
  • Michiaki Nagura
  • Hideji Hattori
  • Tatsufumi Murakami
  • C Paradas
  • Alexandra Bozikova
  • Hidee Arai
  • Kunio Toda
  • Keiji Chida
  • Akiko Abe
  • Iveta Tothova
  • Jarmila Bernasovská
  • Yuko Shimizu
  • Eiichi Ito
  • Regina Behulova
  • Fabienne Maurer
  • Jacques S Beckmann
  • Soňa Mačeková
  • Kayoko Saito
  • Nobuyuki Oka
  • D Martínez-Rubio
  • Martin Mistrik
  • Mari Urano
  • Eduardo Calpena
  • Kyoko Watanabe
  • T Jaijo
  • Luca Bartesaghi
  • Shinichiro Uchiyama
  • Kiyoshi Hayasaka
  • C Marquez
  • Chisen Takeuchi
  • Satoshi Yamao
  • Mizue Iai
  • Yumiko Kishikawa

Detail Information

Publications45

  1. ncbi [Molecular genetics of inherited neuropathies]
    Hiroshi Takashima
    Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences
    Rinsho Shinkeigaku 46:1-18. 2006
    ..Since these three proteins share a common pathway, disruption in any of them could induce a delay in the transcription process. The low rate of protein supply could lead to deaths of large neuronal cells...
  2. ncbi Clinical spectrum of CMT4C disease in patients homozygous for the p.Arg1109X mutation in SH3TC2
    Jaume Colomer
    Servei de Neurologia, Hospital Sant Joan de Deu, Barcelona, Spain
    Neuromuscul Disord 16:449-53. 2006
    ..Arg1109X in SH3TC2. We observed a surprising degree of variation in age at onset, rate of progression, extent and severity of motor ..
  3. ncbi Schwann cells and the pathogenesis of inherited motor and sensory neuropathies (Charcot-Marie-Tooth disease)
    Philipp Berger
    Institute of Cell Biology, Department of Biology, ETH Zurich, Zurich, Switzerland
    Glia 54:243-57. 2006
    ..These networks include the control of myelin formation and stability, membrane trafficking, intracellular protein sorting and quality control, and may extend to mitochondrial dynamics and basic protein biosynthesis...
  4. doi BAG3 mutations: another cause of giant axonal neuropathy
    Fatima Jaffer
    MRC Centre for Neuromuscular Diseases, Department of Molecular Neurosciences, UCL Institute of Neurology and the National Hospital for Neurology and Neurosurgery, London, UK
    J Peripher Nerv Syst 17:210-6. 2012
    ..giant axonal neuropathy caused by gigaxonin mutations but have also been reported in association with NEFL- and SH3TC2-associated Charcot-Marie-Tooth disease...
  5. doi Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4C
    Marion Yger
    APHP, Center for reference of neuromuscular diseases Paris Est, Institut de Myologie, Hopital de la Pitie Salpetriere, 47 83 boulevard de l Hopital, Paris, France
    J Peripher Nerv Syst 17:112-22. 2012
    ..evoking CMT4C, an autosomal recessive (AR) form of Charcot-Marie-Tooth disease (CMT) due to mutations in the SH3TC2 gene, we screened the coding sequence of SH3TC2 gene in 102 unrelated patients with a demyelinating or ..
  6. pmc SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease
    Carina Fischer
    Center for Medical Research, Medical University of Graz, Graz, Austria
    J Neurol 259:515-23. 2012
    ..CMT4C was the most common genetic subtype with mutations detected in SH3TC2, one (p.E632Kfs13X) appearing to be a novel founder mutation...
  7. doi High frequency of SH3TC2 mutations in Czech HMSN I patients
    P Lassuthová
    DNA Laboratory, Department of Child Neurology, 2nd Medical School, University Hospital Motol, Prague, Czech Republic
    Clin Genet 80:334-45. 2011
    ..is an autosomal recessive (AR), demyelinating neuropathy with early spine deformities caused by mutations in the SH3TC2 gene...
  8. ncbi Gene symbol: SH3TC2. Disease: Charcot-Marie-Tooth type 4C
    Carmen Espinos
    CIBER de Enfermedades Raras CIBERER, Genetics and Molecular Medicine, Instituto de Biomedicina de Valencia, CSIC, C Jaume Roig, 11, 46010 Valencia, Spain
    Hum Genet 124:320. 2008
  9. ncbi Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease
    O Dubourg
    INSERM U679 ex U289, La Pitie Salpetriere Hospital, AP HP, Paris, France
    Neuromolecular Med 8:75-86. 2006
    ..In this review, we will focus on the particular clinical and/or neuropathological features of the phenotype caused by mutations in each of these genes, which might guide molecular diagnosis...
  10. doi Clinical, in silico, and experimental evidence for pathogenicity of two novel splice site mutations in the SH3TC2 gene
    Petra Lassuthová
    DNA Laboratory, Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and University Hospital Motol, Prague, Czech Republic
    J Neurogenet 26:413-20. 2012
    ..CMT is genetically very heterogeneous. Mutations in the SH3TC2 gene cause Charcot-Marie-Tooth neuropathy type 4C (CMT4C), a demyelinating form with autosomal recessive ..
  11. doi Genetics of the Charcot-Marie-Tooth disease in the Spanish Gypsy population: the hereditary motor and sensory neuropathy-Russe in depth
    T Sevilla
    Department of Neurology, Hospital Universitari I Politècnic La Fe, Valencia, Spain
    Clin Genet 83:565-70. 2013
    ..R148X in CMT type 4D (CMT4D/HMSN-Lom); p.C737_P738delinsX and p.R1109X mutations in the SH3TC2 gene (CMT4C); and a G>C change in a novel alternative untranslated exon in the HK1 gene causative of CMT4G (..
  12. doi [What's new in hereditary neuropathies ?]
    A Lacour
    Clinique neurologique et centre de référence des maladies rares neuromusculaires, Hopital Roger Salengro, CHRU de Lille, Rue Emile Laine, 59037 Lille, France Electronic address
    Rev Neurol (Paris) 169:1001-3. 2013
    ..second study, the clinical and electrophysiological characteristics of 14 patients with CMT4C due to mutations in SH3TC2 gene are described (Yger et al., 2012)...
  13. doi Founder mutations in NDRG1 and HK1 genes are common causes of inherited neuropathies among Roma/Gypsies in Slovakia
    Dana Gabrikova
    Department of Biology, Faculty of Humanities and Natural Sciences, University of Presov, Ul 17 Novembra 1, 08116, Presov, Slovakia
    J Appl Genet 54:455-60. 2013
    ..There are three subtypes of autosomal recessive CMT with mutations private to the Roma population: CMT4C, CMT4D and CMT4G...
  14. doi Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes
    Meriem Tazir
    Service de Neurologie, University Hospital Mustapha Bacha, Alger, Algeria
    J Peripher Nerv Syst 18:113-29. 2013
    ..autosomal recessive inheritance allowed the identification of many genes such as GDAP1, MTMR2, SBF2, NDRG1, EGR2, SH3TC2, PRX, FGD4, and FIG4, implicated in demyelinating forms (ARCMT1 or CMT4), and LMNA, MED25, HINT1, GDAP1, LRSAM1, ..
  15. doi Sh3tc2 deficiency affects neuregulin-1/ErbB signaling
    Estelle Arnaud Gouttenoire
    Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland
    Glia 61:1041-51. 2013
    Mutations in SH3TC2 trigger autosomal recessive demyelinating Charcot-Marie-Tooth type 4C (CMT4C) neuropathy. Sh3tc2 is specifically expressed in Schwann cells and is necessary for proper myelination of peripheral axons...
  16. doi Charcot-Marie-Tooth disease type 4C in Japan: report of a case
    Masahiro Iguchi
    Department of Neurology, Tokyo Women s Medical University School of Medicine, Kawada cho 8 1, Shinjuku ku, Tokyo, Japan
    Muscle Nerve 47:283-6. 2013
    The distribution of documented cases of Charcot-Marie-Tooth disease type 4C (CMT4C) is mainly limited to the Mediterranean region. We report the first documented case of CMT4C in East Asia...
  17. ncbi [Autosomal recessive forms of Charcot-Marie-Tooth disease]
    Jean Michel Vallat
    Service de Neurologie, CHU Dupuytren, 2 Avenue Martin Luther King, 87042 Limoges, France
    Bull Acad Natl Med 189:55-68; discussion 68-9. 2005
    ..Nerve biopsy and molecular studies can contribute to the diagnosis, but this approach is highly time-consuming and can only be performed in specialized laboratories...
  18. doi Molecular analysis of the genes causing recessive demyelinating Charcot-Marie-Tooth disease in Japan
    Makiko Hayashi
    Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan
    J Hum Genet 58:273-8. 2013
    ..We found one patient with a GDAP1 mutation, one patient with an MTMR2 mutation, two patients with SH3TC2/KIAA1985 mutations and three patients with FGD4 mutations...
  19. ncbi Autosomal recessive forms of Charcot-Marie-Tooth disease
    J M Vallat
    Service de Neurologie, CHU Dupuytren, 2 Avenue Martin Luther King, 87042 Limoges Cedex, France
    Curr Neurol Neurosci Rep 4:413-9. 2004
    ..There is, therefore, an indication for nerve biopsy to orient diagnostic research in molecular biology, which is presently very time consuming and can only be performed in highly specialized laboratories...
  20. doi SH3TC2, a protein mutant in Charcot-Marie-Tooth neuropathy, links peripheral nerve myelination to endosomal recycling
    Claudia Stendel
    Institute of Cell Biology, Department of Biology, ETH Zurich, Zurich, Switzerland
    Brain 133:2462-74. 2010
    Patients with Charcot-Marie-Tooth neuropathy and gene targeting in mice revealed an essential role for the SH3TC2 gene in peripheral nerve myelination...
  21. pmc Genetic spectrum of hereditary neuropathies with onset in the first year of life
    Jonathan Baets
    Neurogenetics Group, VIB Department of Molecular Genetics, University of Antwerp, Universiteitsplein 1, B 2610 Antwerpen, Belgium
    Brain 134:2664-76. 2011
    ..sequencing of the coding regions of 11 genes: MFN2, PMP22, MPZ, EGR2, GDAP1, NEFL, FGD4, MTMR2, PRX, SBF2 and SH3TC2. In addition, screening for the Charcot-Marie-Tooth type 1A duplication on chromosome 17p11.2-12 was performed...
  22. doi Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy
    James R Lupski
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    N Engl J Med 362:1181-91. 2010
    ..We therefore aimed to assess the usefulness of human whole-genome sequencing for genetic diagnosis in a patient with Charcot-Marie-Tooth disease...
  23. pmc Mistargeting of SH3TC2 away from the recycling endosome causes Charcot-Marie-Tooth disease type 4C
    Rhys C Roberts
    Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 0XY, UK
    Hum Mol Genet 19:1009-18. 2010
    Mutations in the functionally uncharacterized protein SH3TC2 are associated with the severe hereditary peripheral neuropathy, Charcot-Marie-Tooth disease type 4C (CMT4C)...
  24. ncbi Genetic study of demyelinating form of autosomal-recessive Charcot-Marie-tooth diseases in a Turkish family
    Nilufer Sahin-Calapoğlu
    Department of Medical Biology, Suleyman Demirel University, Faculty of Medicine, Isparta, Turkey
    Int J Neurosci 119:1179-89. 2009
    ..study for the presence of mutations in the coding region of GDAP1 and genetic linkage analyses of CMT4B1, CMT4B2, CMT4C, CMT4D, CMT4E, and CMT4F loci were tested in a Turkish family presenting recessively inherited form of CMT disease ..
  25. pmc SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system
    Estelle Arnaud
    Department of Medical Genetics, University of Lausanne, CH 1005 Lausanne, Switzerland
    Proc Natl Acad Sci U S A 106:17528-33. 2009
    ..The gene mutated in CMT4C disease, SH3TC2/KIAA1985, was recently identified; however, the function of the protein it encodes remains unknown...
  26. pmc HUGE: a database for human large proteins identified in the Kazusa cDNA sequencing project
    Reiko Kikuno
    Kazusa DNA Research Institute, 1532 3 Yana, Kisarazu, Chiba 292 0812, Japan
    Nucleic Acids Res 30:166-8. 2002
    ..More interestingly, in some cases, the ability to compare cDNA with genomic sequences allows us to identify candidate sites of RNA editing. HUGE is available on the World Wide Web at http://www.kazusa.or.jp/huge...
  27. ncbi The kinesin superfamily protein Rab6KIFL is not involved in the pathophysiology of Charcot-Marie-Tooth disease type 4C
    Michiaki Nagura
    Department of Pediatrics, Graduate School of Medicine, University of Tokyo, Bunkyo ku, Tokyo 113 8655, Japan
    Int J Mol Med 11:45-7. 2003
    Charcot-Marie-Tooth disease type 4C (CMT4C) is an autosomal recessive peripheral neuropathy reported in several Algerian families. The gene locus of this disease has been narrowed to 5q31-33...
  28. pmc Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy
    Jan Senderek
    Department of Human Genetics, Aachen University of Technology, Aachen, Germany
    Am J Hum Genet 73:1106-19. 2003
    Charcot-Marie-Tooth disease type 4C (CMT4C) is a childhood-onset demyelinating form of hereditary motor and sensory neuropathy associated with an early-onset scoliosis and a distinct Schwann cell pathology...
  29. ncbi Clinicopathological and genetic study of early-onset demyelinating neuropathy
    Yesim Parman
    Department of Neurology, Istanbul Medical Faculty, Istanbul University, Millet Cad, Capa, 34390 Istanbul, Turkey
    Brain 127:2540-50. 2004
    ..We did not discern a specific pattern of histopathology that could be correlated to mutations in a particular gene...
  30. ncbi Autosomal-recessive Charcot-Marie-Tooth diseases
    Jean Michel Vallat
    Neurology Department, University Hospital, 2 Avenue Martin Luther King, 87042 Limoges, France
    J Neuropathol Exp Neurol 64:363-70. 2005
    ..Like with the dominant forms, there are undoubtedly many more mutations of other genes to be discovered...
  31. pmc A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes
    R Gooding
    Laboratory for Molecular Genetics, Western Australian Institute for Medical Research, Centre for Medical Research, The University of Western Australia, Perth, Australia
    J Med Genet 42:e69. 2005
    ..Arg1109X, in the CMT4C gene. The screening of further unrelated patients, and of a panel of ethnically matched controls, showed that p...
  32. ncbi Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33
    E LeGuern
    INSERM U289, Hopital de la Salpetriere, Paris, France
    Hum Mol Genet 5:1685-8. 1996
    ..Haplotype reconstruction and determination of the minimal region of homozygosity restricts the candidate region to a 4 cM interval...
  33. ncbi Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations
    H Azzedine
    INSERM U679 ex U289, Neurology and Experimental Therapeutics, La Pitie Salpetriere Hospital, Paris, France
    Neurology 67:602-6. 2006
    ..Recently, 11 mutations were identified in the SH3TC2 (KIAA1985) gene in 12 families with demyelinating ARCMT from Turkish, Iranian, Greek, Italian, or German origin.
  34. ncbi The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4
    R Claramunt
    Instituto de Biomedicina, Consejo Superior de Investigaciones Cientificas, Valencia, Spain
    Clin Genet 71:343-9. 2007
    ..that in 10 families, the disease is caused by mutations located on the SH3 domain and tetratricopeptide repeats 2 (SH3TC2) gene: p.R1109X in 20 out of 21 chromosomes and p.C737_P738delinsX in only one chromosome. Moreover, the SH3TC2 p...
  35. ncbi Charcot-Marie-Tooth disorders with an autosomal recessive mode of inheritance
    D Kabzinska
    Neuromuscular Unit, Mossakowski Medical Research Center, Polish Academy of Sciences, Pawinskiego 5, Warszawa, Poland
    Clin Neuropathol 27:1-12. 2008
    ..In the present review, we summarize molecular, electrophysiological, neuropathological and clinical aspects of AR-CMT disorders...
  36. doi Genome-wide analysis of copy number changes and loss of heterozygosity in myelodysplastic syndrome with del(5q) using high-density single nucleotide polymorphism arrays
    Li Wang
    LRF Molecular Haematology Unit, Nuffield Department of Clinical, Laboratory Sciences, University of Oxford, John Radcliffe Hospital, Oxford OX3 9DU, UK
    Haematologica 93:994-1000. 2008
    ..Single nucleotide polymorphism array analysis has been shown to detect not only gene deletions but also regions of uniparental disomy that can pinpoint particular regions for mutation analysis...
  37. doi Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster
    Isabelle Gosselin
    Laboratoire de neurogénétique de la motricité, Centre d excellence en neuromique de l Université de Montréal, Centre de recherche du Centre Hospitalier de l Universite de Montreal, Hopital Notre Dame CHUM, Montreal, Que, Canada
    Neuromuscul Disord 18:483-92. 2008
    ..06). Haplotype analysis suggests that two SH3TC2 mutations are present in this cohort. The majority of carrier chromosomes, 26 of 34 (76%), carry the c...
  38. doi Histopathological findings in hereditary motor and sensory neuropathy of axonal type with onset in early childhood associated with mitofusin 2 mutations
    Jean Michel Vallat
    Laboratoire de Neurologie, Centre de Référence des Neuropathies Périphériques Rares, CHU de Limoges, Limoges, France
    J Neuropathol Exp Neurol 67:1097-102. 2008
    ..genetic basis of some hereditary neuropathies such as those associated with mutations in MPZ, GJB1, GDAP1, MTMR2, SH3TC2, PRX, FGD4, and LMNA...
  39. doi Characterization of a de novo translocation t(5;18)(q33.1;q12.1) in an autistic boy identifies a breakpoint close to SH3TC2, ADRB2, and HTR4 on 5q, and within the desmocollin gene cluster on 18q
    John B Vincent
    Centre for Addiction and Mental Health, Toronto, Ontario, Canada
    Am J Med Genet B Neuropsychiatr Genet 150:817-26. 2009
    ..The chromosome 5 breakpoint lies at the 3' end of the SH3TC2 gene and distal to beta-adrenergic receptor gene ADRB2 and serotonin receptor gene HTR4...
  40. doi The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy
    Henry Houlden
    Department of Molecular Neurosciences and The MRC Centre for Neuromuscular diseases, The National Hospital for Neurology and Neurosurgery, The Institute of Neurology, Queen Square, London, WC1N 3BG, England, UK
    Neuromuscul Disord 19:264-9. 2009
    ..for CMT4C was previously assigned to the chromosome 5q23 region by homozygosity mapping and mutations in the SH3TC2 (KIAA1985) gene have been subsequently identified mainly in families around the Mediterranean basin but also ..
  41. ncbi [Ultrastructural lesions of axonal mitochondria in patients with childhood-onset Charcot-Marie-Tooth disease due to MFN2 mutations]
    Benoit Funalot
    Service de Neurologie et Centre de Référence des Neuropathies périphériques rares, CHU Dupuytren, Limoges, France
    Bull Acad Natl Med 193:151-60; discussion 160-1. 2009
    ..sufficiently characteristic to suggest the genetic basis of some hereditary neuropathies such as those associated with mutations in MPZ, GJB1, GDAP1, MTMR2, SH3TC2, PRX, FGD4 and LMNA. This may also be true of MFN2-related neuropathies.
  42. doi Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway
    Vincenzo Lupo
    Genetics and Molecular Medicine Unit, Instituto de Biomedicina de Valencia IBV, CSIC, Valencia 46010, Spain
    Hum Mol Genet 18:4603-14. 2009
    Mutations in SH3TC2 (KIAA1985) cause Charcot-Marie-Tooth disease (CMT) type 4C, a demyelinating inherited neuropathy characterized by early-onset and scoliosis...
  43. ncbi Identification and characterization of the human serotonin-4 receptor gene promoter
    T Hiroi
    Radioisotope Research Institute, St Marianna University School of Medicine, Kawasaki 216 8511, Japan
    Biochem Biophys Res Commun 289:337-44. 2001
    ..In addition, untranslated exon 1 contained negative (+112 to +182) as well as positive (+1 to +111) modulators, indicating that exon 1 plays a regulatory role in the 5-HT(4) receptor gene expression...