fukutin

Summary

Gene Symbol: fukutin
Description: fukutin
Alias: CMD1X, FCMD, LGMD2M, MDDGA4, MDDGB4, MDDGC4, fukutin, Fukuyama type congenital muscular dystrophy protein, patient fukutin
Species: human
Products:     fukutin

Top Publications

  1. Kobayashi K, Nakahori Y, Miyake M, Matsumura K, Kondo Iida E, Nomura Y, et al. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature. 1998;394:388-92 pubmed
    ..The predicted protein, which we term fukutin, contains an amino-terminal signal sequence, which together with results from transfection experiments suggests ..
  2. Toda T, Segawa M, Nomura Y, Nonaka I, Masuda K, Ishihara T, et al. Localization of a gene for Fukuyama type congenital muscular dystrophy to chromosome 9q31-33. Nat Genet. 1993;5:283-6 pubmed
    Fukuyama type congenital muscular dystrophy (FCMD) is an autosomal recessive severe muscular dystrophy associated with an anomaly of the brain...
  3. Oue N, Sentani K, Sakamoto N, Uraoka N, Yasui W. Molecular carcinogenesis of gastric cancer: Lauren classification, mucin phenotype expression, and cancer stem cells. Int J Clin Oncol. 2019;: pubmed publisher
    ..Alterations of these molecules may be useful to understand gastric carcinogenesis. Specific inhibitors of these molecules may also be promising anticancer drugs. ..
  4. Kawahara G, Guyon J, Nakamura Y, Kunkel L. Zebrafish models for human FKRP muscular dystrophies. Hum Mol Genet. 2010;19:623-33 pubmed publisher
    ..b>Fukutin-related protein (FKRP) was identified as a homolog of fukutin, the defective protein in Fukuyama-type congenital ..
  5. Ishigaki K, Ihara C, Nakamura H, Mori Yoshimura M, Maruo K, Taniguchi Ikeda M, et al. National registry of patients with Fukuyama congenital muscular dystrophy in Japan. Neuromuscul Disord. 2018;: pubmed publisher
    ..is the second most common form of muscular dystrophy in the Japanese population and is caused by mutations in the fukutin (FKTN) gene...
  6. Yang H, Kobayashi K, Wang S, Jiao H, Xiao J, Toda T, et al. Founder mutation causes classical Fukuyama congenital muscular dystrophy (FCMD) in Chinese patients. Brain Dev. 2015;37:880-6 pubmed publisher
    ..chain reaction and DNA sequencing were employed to analyze the exons and surrounding intron sequences of the fukutin (FKTN) gene to detect mutations. Haplotype analysis was also performed on each patient and their parents...
  7. Rodrigues M, Yokota T. An Overview of Recent Advances and Clinical Applications of Exon Skipping and Splice Modulation for Muscular Dystrophy and Various Genetic Diseases. Methods Mol Biol. 2018;1828:31-55 pubmed publisher
    ..modulation are also being studied in other muscular dystrophies, such as Fukuyama congenital muscular dystrophy (FCMD), dysferlinopathy including limb-girdle muscular dystrophy type 2B (LGMD2B), Miyoshi myopathy (MM), and distal ..
  8. Yamamoto T, Shibata N, Saito Y, Osawa M, Kobayashi M. Functions of fukutin, a gene responsible for Fukuyama type congenital muscular dystrophy, in neuromuscular system and other somatic organs. Cent Nerv Syst Agents Med Chem. 2010;10:169-79 pubmed
    ..The sugar chains of alpha-dystroglycan are receptors for extracellular matrix proteins such as laminin. Fukutin, a gene responsible for FCMD, is presumably related to the glycosylation of alpha-dystroglycan like other ..
  9. Maruyama R, Yokota T. Tips to Design Effective Splice-Switching Antisense Oligonucleotides for Exon Skipping and Exon Inclusion. Methods Mol Biol. 2018;1828:79-90 pubmed publisher
    ..g., limb-girdle muscular dystrophy type 2C; LGMD2C), and Fukuyama congenital muscular dystrophy (FCMD). A major challenge in exon skipping and exon inclusion is the difficulty in designing effective AONs...

More Information

Publications74

  1. Imae R, Manya H, Tsumoto H, Osumi K, Tanaka T, Mizuno M, et al. CDP-glycerol inhibits the synthesis of the functional O-mannosyl glycan of α-dystroglycan. J Biol Chem. 2018;293:12186-12198 pubmed publisher
    ..In the biosynthetic pathway of functional O-mannosyl glycan, fukutin (FKTN) and fukutin-related protein (FKRP), whose mutated genes underlie α-dystroglycanopathy, sequentially ..
  2. Kanagawa M, Lu Z, Ito C, Matsuda C, Miyake K, Toda T. Contribution of dysferlin deficiency to skeletal muscle pathology in asymptomatic and severe dystroglycanopathy models: generation of a new model for Fukuyama congenital muscular dystrophy. PLoS ONE. 2014;9:e106721 pubmed publisher
    ..We previously generated knock-in mice carrying a founder retrotransposal insertion in fukutin, the gene responsible for FCMD, but these mice did not develop muscular dystrophy, which hindered exploring ..
  3. Ishigaki K, Kato I, Murakami T, Sato T, Shichiji M, Ishiguro K, et al. Renal dysfunction is rare in Fukuyama congenital muscular dystrophy. Brain Dev. 2019;41:43-49 pubmed publisher
    The leading cause of death in patients with Fukuyama congenital muscular dystrophy (FCMD) is congestive heart failure or respiratory dysfunction, which is same as that in Duchenne muscular dystrophy (DMD)...
  4. Johnson K, Bertoli M, Phillips L, Topf A, Van den Bergh P, Vissing J, et al. Detection of variants in dystroglycanopathy-associated genes through the application of targeted whole-exome sequencing analysis to a large cohort of patients with unexplained limb-girdle muscle weakness. Skelet Muscle. 2018;8:23 pubmed publisher
    ..We present evidence for the genetic and phenotypic diversity of the dystroglycanopathies as a disease group, while also highlighting the advantage of incorporating next-generation sequencing into the diagnostic pathway of rare diseases. ..
  5. Lee J, Yokota T. Antisense therapy in neurology. J Pers Med. 2013;3:144-76 pubmed publisher
    ..amyotrophic lateral sclerosis (ALS), Duchenne muscular dystrophy (DMD), Fukuyama congenital muscular dystrophy (FCMD), dysferlinopathy (including limb-girdle muscular dystrophy 2B; LGMD2B, Miyoshi myopathy; MM, and distal myopathy ..
  6. Carlson C, McGaughey S, Eskuri J, Stephan C, Zimmerman M, Mathews K. Illness-associated muscle weakness in dystroglycanopathies. Neurology. 2017;89:2374-2380 pubmed publisher
    ..People with DG, across genotypes, can experience acute, transient weakness associated with a febrile illness, a phenomenon that rarely occurs in DBMD. The physiologic basis of this phenomenon is unknown. NCT00313677. ..
  7. Yoshioka M, Kobayashi K, Toda T. Novel FKRP mutations in a Japanese MDC1C sibship clinically diagnosed with Fukuyama congenital muscular dystrophy. Brain Dev. 2017;39:869-872 pubmed publisher
    Fukuyama congenital muscular dystrophy (FCMD), caused by fukutin mutations, is the most common form of Japanese CMD...
  8. Yamamoto T, Taniguchi Ikeda M, Awano H, Matsumoto M, Lee T, Harada R, et al. Cardiac involvement in Fukuyama muscular dystrophy is less severe than in Duchenne muscular dystrophy. Brain Dev. 2017;39:861-868 pubmed publisher
    ..The literature on cardiac involvement in patients with Fukuyama congenital muscular dystrophy (FCMD) is limited. To compare cardiac involvement between patients with FCMD and Duchenne muscular dystrophy (DMD)...
  9. Pham T, Oue N, Yamamoto M, Fujihara M, Ishida T, Mukai S, et al. Characteristic expression of fukutin in gastric cancer among atomic bomb survivors. Oncol Lett. 2017;13:937-941 pubmed publisher
    ..biomarkers and possible mechanisms of radiation-induced cancer, the expression of FKTN, which encodes fukutin protein and causes Fukuyama-type congenital muscular dystrophy, was analyzed in gastric cancer (GC) tissue ..
  10. Sato T, Adachi M, Nakamura K, Zushi M, Goto K, Murakami T, et al. The gross motor function measure is valid for Fukuyama congenital muscular dystrophy. Neuromuscul Disord. 2017;27:45-49 pubmed publisher
    ..FCMD is an autosomal recessive disorder caused by mutations in the fukutin gene...
  11. Yagi H, Kuo C, Obayashi T, Ninagawa S, Khoo K, Kato K. Direct Mapping of Additional Modifications on Phosphorylated O-glycans of α-Dystroglycan by Mass Spectrometry Analysis in Conjunction with Knocking Out of Causative Genes for Dystroglycanopathy. Mol Cell Proteomics. 2016;15:3424-3434 pubmed
    ..The simplified analytical workflow developed here should facilitate rapid mapping across a wider range of cell types to gain better insights into its physiological relevance. ..
  12. Hino K, Fukuda M, Morino T, Ogata T, Ito M, Ishii E. Spinal fusion in a patient with Fukuyama congenital muscular dystrophy. Brain Dev. 2017;39:613-616 pubmed publisher
    ..However, few reports have described patients with Fukuyama congenital muscular dystrophy (FCMD)...
  13. Saito W, Namba T, Inoue G, Imura T, Miyagi M, Nakazawa T, et al. Spinal correction in patients with Fukuyama congenital muscular dystrophy. J Orthop Sci. 2017;22:658-664 pubmed publisher
    Fukuyama congenital muscular dystrophy (FCMD) is one of the most common congenital progressive muscular dystrophies in Japan. Some patients develop a severe spinal deformity that leads to an unstable sitting position or pain...
  14. Jaeken J, Peanne R. What is new in CDG?. J Inherit Metab Dis. 2017;40:569-586 pubmed publisher
  15. Alonso Rangel L, Benítez Guerrero T, Martínez Vieyra I, Cisneros B, Martínez Tovar A, Winder S, et al. A role for dystroglycan in the pathophysiology of acute leukemic cells. Life Sci. 2017;182:1-9 pubmed publisher
    ..Dg complex integrity and balance are required for a proper hematopoietic cell function, in that its disruption might contribute to leukemia pathophysiology. ..
  16. Taniguchi Ikeda M, Morioka I, Iijima K, Toda T. Mechanistic aspects of the formation of ?-dystroglycan and therapeutic research for the treatment of ?-dystroglycanopathy: A review. Mol Aspects Med. 2016;51:115-24 pubmed publisher
    ..includes various types of congenital muscular dystrophy such as Fukuyama type congenital muscular dystrophy (FCMD), muscle eye brain disease (MEB), and the Walker Warburg syndrome (WWS), and types of limb girdle muscular ..
  17. Foltz S, Luan J, Call J, Patel A, Peissig K, Fortunato M, et al. Four-week rapamycin treatment improves muscular dystrophy in a fukutin-deficient mouse model of dystroglycanopathy. Skelet Muscle. 2016;6:20 pubmed publisher
    ..Mutations in a number of genes, including FKTN (fukutin), disrupt ?DG glycosylation...
  18. Gerin I, Ury B, Breloy I, Bouchet Seraphin C, Bolsée J, Halbout M, et al. ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan. Nat Commun. 2016;7:11534 pubmed publisher
    ..synthase domain-containing protein (ISPD) synthesizes CDP-ribitol, present in muscle, and that both recombinant fukutin (FKTN) and fukutin-related protein (FKRP) can transfer a ribitol phosphate group from CDP-ribitol to α-..
  19. Foltz S, Modi J, Melick G, Abousaud M, Luan J, Fortunato M, et al. Abnormal Skeletal Muscle Regeneration plus Mild Alterations in Mature Fiber Type Specification in Fktn-Deficient Dystroglycanopathy Muscular Dystrophy Mice. PLoS ONE. 2016;11:e0147049 pubmed publisher
    ..These data suggest that functionally glycosylated α-dystroglycan has a unique role in muscle regeneration and may influence fiber type specification post-injury. ..
  20. Sato T, Murakami T, Ishiguro K, Shichiji M, Saito K, Osawa M, et al. Respiratory management of patients with Fukuyama congenital muscular dystrophy. Brain Dev. 2016;38:324-30 pubmed publisher
    ..associated with cortical migration defects, is an autosomal recessive disorder caused by mutation in the fukutin gene. It is the second most common type of muscular dystrophy in Japan...
  21. Inamori K, Beedle A, de Bernabé D, Wright M, Campbell K. LARGE2-dependent glycosylation confers laminin-binding ability on proteoglycans. Glycobiology. 2016;26:1284-1296 pubmed
    ..Thus, LARGE2 may play a differential role in stabilizing the basement membrane and modifying its functions by augmenting the interactions between laminin globular domain-containing ECM proteins and PGs. ..
  22. Izquierdo Lahuerta A, de Luis O, Gómez Esquer F, Cruces J, Coloma A. Gallus gallus orthologous to human alpha-dystroglycanopathies candidate genes: Gene expression and characterization during chicken embryogenesis. Biochem Biophys Res Commun. 2016;478:1043-8 pubmed publisher
  23. Yis U, Uyanik G, Heck P, Smitka M, Nobel H, Ebinger F, et al. Fukutin mutations in non-Japanese patients with congenital muscular dystrophy: less severe mutations predominate in patients with a non-Walker-Warburg phenotype. Neuromuscul Disord. 2011;21:20-30 pubmed publisher
    Six genes including POMT1, POMT2, POMGNT1, FKRP, Fukutin (FKTN) and LARGE encode proteins involved in the glycosylation of ?-dystroglycan (?-DG)...
  24. Lim B, Ki C, Kim J, Cho A, Kim M, Hwang H, et al. Fukutin mutations in congenital muscular dystrophies with defective glycosylation of dystroglycan in Korea. Neuromuscul Disord. 2010;20:524-30 pubmed publisher
    This study was aimed to identify Fukutin (FKTN)-related congenital muscular dystrophies (CMD) with defective alpha-dystroglycan glycosylation in Korea and to discuss their genotype-phenotype spectrum focusing on detailed brain magnetic ..
  25. Percival J, Froehner S. Golgi complex organization in skeletal muscle: a role for Golgi-mediated glycosylation in muscular dystrophies?. Traffic. 2007;8:184-94 pubmed
    ..Mutations in putative Golgi-resident GTs, fukutin, fukutin-related protein and large1 cause these progressive muscle-wasting diseases...
  26. Miyake M, Nakahori Y, Matsushita I, Kobayashi K, Mizuno K, Hirai M, et al. YAC and cosmid contigs encompassing the Fukuyama-type congenital muscular dystrophy (FCMD) candidate region on 9q31. Genomics. 1997;40:284-93 pubmed
    Fukuyama-type congenital muscular dystrophy (FCMD), the second most common form of childhood muscular dystrophy in Japan, is an autosomal recessive severe muscular dystrophy associated with an anomaly of the brain...
  27. Kondo Iida E, Kobayashi K, Watanabe M, Sasaki J, Kumagai T, Koide H, et al. Novel mutations and genotype-phenotype relationships in 107 families with Fukuyama-type congenital muscular dystrophy (FCMD). Hum Mol Genet. 1999;8:2303-9 pubmed
    ..chromosome 9q31, the gene responsible for FCMD, which encodes a novel 461 amino acid protein which we have termed fukutin. Most FCMD-bearing chromosomes examined to date (87%) have been derived from a single ancestral founder, whose ..
  28. Saito K, Osawa M, Wang Z, Ikeya K, Fukuyama Y, Kondo Iida E, et al. Haplotype-phenotype correlation in Fukuyama congenital muscular dystrophy. Am J Med Genet. 2000;92:184-90 pubmed
    In typical Fukuyama congenital muscular dystrophy (FCMD), peak motor function is usually only unassisted sitting or sliding on the buttocks, though a few patients are able to walk at some point...
  29. Kobayashi K, Sasaki J, Kondo Iida E, Fukuda Y, Kinoshita M, Sunada Y, et al. Structural organization, complete genomic sequences and mutational analyses of the Fukuyama-type congenital muscular dystrophy gene, fukutin. FEBS Lett. 2001;489:192-6 pubmed
    ..Previously, we identified the gene responsible for FCMD, termed fukutin, through positional cloning...
  30. Hayashi Y, Ogawa M, Tagawa K, Noguchi S, Ishihara T, Nonaka I, et al. Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy. Neurology. 2001;57:115-21 pubmed
    ..The gene for FCMD is located on chromosome 9q31, and encodes a novel protein named fukutin. The function of fukutin is not known yet, but is suggested to be an enzyme that modifies the cell-surface ..
  31. Esapa C, Benson M, Schröder J, Martin Rendon E, Brockington M, Brown S, et al. Functional requirements for fukutin-related protein in the Golgi apparatus. Hum Mol Genet. 2002;11:3319-31 pubmed
    ..CMD and CMD type 1C (MDC1C) are caused by mutations in the genes encoding two putative glycosyltransferases, fukutin and fukutin-related protein (FKRP)...
  32. Kato R, Kawamura J, Sugawara H, Niikawa N, Matsumoto N. A rapid diagnostic method for a retrotransposal insertional mutation into the FCMD gene in Japanese patients with Fukuyama congenital muscular dystrophy. Am J Med Genet A. 2004;127A:54-7 pubmed
    Fukuyama-type congenital muscular dystrophy (FCMD) is characterized by congenital muscular dystrophy in combination with central nervous system (CNS) abnormalities...
  33. Yamamoto T, Kawaguchi M, Sakayori N, Muramatsu F, Morikawa S, Kato Y, et al. Intracellular binding of fukutin and alpha-dystroglycan: relation to glycosylation of alpha-dystroglycan. Neurosci Res. 2006;56:391-9 pubmed
    The functions of fukutin, a gene product responsible for Fukuyama type congenital muscular dystrophy, still remain unclear, although a relation to the glycosylation of alpha-dystroglycan is presumed...
  34. Cotarelo R, Valero M, Prados B, Pena A, Rodriguez L, Fano O, et al. Two new patients bearing mutations in the fukutin gene confirm the relevance of this gene in Walker-Warburg syndrome. Clin Genet. 2008;73:139-45 pubmed publisher
    ..studied two WWS patients born to non-consanguineous parents, and in both cases, we identified mutations in the fukutin gene responsible for this syndrome...
  35. Manzini M, Gleason D, Chang B, Hill R, Barry B, Partlow J, et al. Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East. Hum Mutat. 2008;29:E231-41 pubmed publisher
    ..Mutations in six genes involved in the glycosylation of á-dystroglycan (POMT1, POMT2, POMGNT1, FCMD, FKRP and LARGE) have been identified in WWS patients, but account for only a portion of WWS cases...
  36. Yamamoto T, Kato Y, Shibata N, Sawada T, Osawa M, Kobayashi M. A role of fukutin, a gene responsible for Fukuyama type congenital muscular dystrophy, in cancer cells: a possible role to suppress cell proliferation. Int J Exp Pathol. 2008;89:332-41 pubmed publisher
    b>Fukutin, a gene responsible for Fukuyama type congenital muscular dystrophy (FCMD), is presumably related to the glycosylation of alpha-dystroglycan (alpha-DG), involved in basement membrane formation...
  37. Yoshioka M. Phenotypic spectrum of Fukutinopathy: most severe phenotype of Fukutinopathy. Brain Dev. 2009;31:419-22 pubmed publisher
    ..Among them, WWS is the most severe syndrome. Causative genes for FCMD (Fukutin), WWS (POMT1), and MEB (POMGnT1) have been identified...
  38. Saredi S, Ruggieri A, Mottarelli E, Ardissone A, Zanotti S, Farina L, et al. Fukutin gene mutations in an Italian patient with early onset muscular dystrophy but no central nervous system involvement. Muscle Nerve. 2009;39:845-8 pubmed publisher
    ..We found fukutin gene mutations in a 4...
  39. Mercuri E, Messina S, Bruno C, Mora M, Pegoraro E, Comi G, et al. Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. Neurology. 2009;72:1802-9 pubmed publisher
    ..of a multicentric study involving all the tertiary neuromuscular centers in Italy, FKRP, POMT1, POMT2, POMGnT1, fukutin, and LARGE were screened in 81 patients with CMD and alpha-DG reduction on muscle biopsy (n = 76) or with a ..
  40. Arimura T, Hayashi Y, Murakami T, Oya Y, Funabe S, Arikawa Hirasawa E, et al. Mutational analysis of fukutin gene in dilated cardiomyopathy and hypertrophic cardiomyopathy. Circ J. 2009;73:158-61 pubmed
    Mutations in FKTN encoding for fukutin cause Fukuyama-type congenital muscular dystrophy characterized by severe muscle wasting and hypotonia with mental retardation...
  41. de Bernabé D, van Bokhoven H, van Beusekom E, Van den Akker W, Kant S, Dobyns W, et al. A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype. J Med Genet. 2003;40:845-8 pubmed
  42. Toda T, Kobayashi K, Kondo Iida E, Sasaki J, Nakamura Y. The Fukuyama congenital muscular dystrophy story. Neuromuscul Disord. 2000;10:153-9 pubmed
    ..for fukuyama congenital muscular dystrophy on 9q31, which encodes a novel 461-amino-acid protein termed fukutin. Most Fukuyama congenital muscular dystrophy-bearing chromosomes are derived from a single ancestral founder (87%)..
  43. Puckett R, Moore S, Winder T, Willer T, Romansky S, Covault K, et al. Further evidence of Fukutin mutations as a cause of childhood onset limb-girdle muscular dystrophy without mental retardation. Neuromuscul Disord. 2009;19:352-6 pubmed publisher
    ..Mutations in the fukutin (FKTN) gene have primarily been identified among patients with classic Fukuyama congenital muscular dystrophy (..
  44. Nabhan M, ElKhateeb N, Braun D, Eun S, Saleem S, YungGee H, et al. Cystic kidneys in fetal Walker-Warburg syndrome with POMT2 mutation: Intrafamilial phenotypic variability in four siblings and review of literature. Am J Med Genet A. 2017;173:2697-2702 pubmed publisher
    ..protein O-mannosyltransferase 2 (POMT2), protein O-mannose beta-1,2-N acetylglucosaminyltransferase (POMGNT1), fukutin (FKTN), isoprenoid synthase domain-containing protein (ISPD), and other genes...
  45. Yamamoto T, Kato Y, Karita M, Takeiri H, Muramatsu F, Kobayashi M, et al. Fukutin expression in glial cells and neurons: implication in the brain lesions of Fukuyama congenital muscular dystrophy. Acta Neuropathol. 2002;104:217-24 pubmed
    Expression and localization of fukutin, a gene responsible for Fukuyama congenital muscular dystrophy (FCMD), was studied in the central nervous system by in situ hybridization and immunohistochemistry...
  46. Taniguchi Ikeda M, Kobayashi K, Kanagawa M, Yu C, Mori K, Oda T, et al. Pathogenic exon-trapping by SVA retrotransposon and rescue in Fukuyama muscular dystrophy. Nature. 2011;478:127-31 pubmed publisher
    ..In FCMD, the SVA insertion occurs in the 3' untranslated region (UTR) of the fukutin gene. The pathogenic mechanism for FCMD is unknown, and no effective clinical treatments exist...
  47. Silan F, Yoshioka M, Kobayashi K, Simsek E, Tunc M, Alper M, et al. A new mutation of the fukutin gene in a non-Japanese patient. Ann Neurol. 2003;53:392-6 pubmed
    ..FCMD is frequent in Japan, but no FCMD patient with confirmed fukutin gene mutations has been identified in a non-Japanese population...
  48. Ismail S, Schaffer A, Rosti R, Gleeson J, Zaki M. Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly. Gene. 2014;539:279-82 pubmed publisher
    ..kinase level, myopathic electrodiagnostic changes, brain MRI with cobblestone complex, and mutation in the fukutin gene...
  49. Gicquel E, Maizonnier N, Foltz S, Martin W, Bourg N, Svinartchouk F, et al. AAV-mediated transfer of FKRP shows therapeutic efficacy in a murine model but requires control of gene expression. Hum Mol Genet. 2017;26:1952-1965 pubmed publisher
    ..Muscular Dystrophies type 2I (LGMD2I), a recessive autosomal muscular dystrophy, is caused by mutations in the Fukutin Related Protein (FKRP) gene...
  50. Godfrey C, Escolar D, Brockington M, Clement E, Mein R, Jimenez Mallebrera C, et al. Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy. Ann Neurol. 2006;60:603-10 pubmed
    ..Six causative genes have been identified in these disorders including fukutin. Mutations in fukutin cause Fukuyama congenital muscular dystrophy...
  51. Willer T, Inamori K, Venzke D, Harvey C, Morgensen G, Hara Y, et al. The glucuronyltransferase B4GAT1 is required for initiation of LARGE-mediated α-dystroglycan functional glycosylation. elife. 2014;3: pubmed publisher
    ..Our findings greatly broaden the understanding of α-DG glycosylation and provide mechanistic insight into why mutations in B4GAT1 disrupt dystroglycan function and cause disease. ..
  52. Godfrey C, Clement E, Mein R, Brockington M, Smith J, Talim B, et al. Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan. Brain. 2007;130:2725-35 pubmed
    ..Ninety-two probands were screened for mutations in POMT1, POMT2, POMGnT1, fukutin and LARGE...
  53. Chang W, Winder T, LeDuc C, Simpson L, Millar W, Dungan J, et al. Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families. Prenat Diagn. 2009;29:560-9 pubmed publisher
    ..The Fukutin (FKTN) gene, which causes autosomal recessively inherited WWS is most often associated with Fukuyama congenital ..
  54. Vuillaumier Barrot S, Quijano Roy S, Bouchet Seraphin C, Maugenre S, Peudenier S, Van den Bergh P, et al. Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype. Neuromuscul Disord. 2009;19:182-8 pubmed publisher
    Fukuyama congenital muscular dystrophy (FCMD) is frequent in Japan, due to a founder mutation of the fukutin gene (FKTN)...
  55. Oo H, Sentani K, Mukai S, Hattori T, Shinmei S, Goto K, et al. Fukutin, identified by the Escherichia coli ampicillin secretion trap (CAST) method, participates in tumor progression in gastric cancer. Gastric Cancer. 2016;19:443-452 pubmed publisher
    ..1 %) GC tissue samples compared with nonneoplastic gastric mucosa. Immunostaining of fukutin showed that 297 of 695 cases (42.7 %) were positive for fukutin...
  56. Kanagawa M, Kobayashi K, Tajiri M, Manya H, Kuga A, Yamaguchi Y, et al. Identification of a Post-translational Modification with Ribitol-Phosphate and Its Defect in Muscular Dystrophy. Cell Rep. 2016;14:2209-2223 pubmed publisher
    ..Isoprenoid synthase domain-containing (ISPD) is cytidine diphosphate ribitol (CDP-Rbo) synthase. Fukutin and fukutin-related protein are sequentially acting Rbo5P transferases that use CDP-Rbo...
  57. Matsumoto H, Noguchi S, Sugie K, Ogawa M, Murayama K, Hayashi Y, et al. Subcellular localization of fukutin and fukutin-related protein in muscle cells. J Biochem. 2004;135:709-12 pubmed
    ..The genes responsible for these disorders are fukutin and fukutin-related protein (FKRP), respectively...
  58. Murakami T, Hayashi Y, Noguchi S, Ogawa M, Nonaka I, Tanabe Y, et al. Fukutin gene mutations cause dilated cardiomyopathy with minimal muscle weakness. Ann Neurol. 2006;60:597-602 pubmed
    The fukutin gene (FKTN) is the causative gene for Fukuyama-type congenital muscular dystrophy, characterized by rather homogeneous clinical features of severe muscle wasting and hypotonia from early infancy with mental retardation...
  59. Nishihara R, Kobayashi K, Imae R, Tsumoto H, Manya H, Mizuno M, et al. Cell endogenous activities of fukutin and FKRP coexist with the ribitol xylosyltransferase, TMEM5. Biochem Biophys Res Commun. 2018;497:1025-1030 pubmed publisher
    ..Functions of the dystroglycanopathy genes fukutin, fukutin-related protein (FKRP), and transmembrane protein 5 (TMEM5) were most recently identified; fukutin and ..
  60. Sasaki J, Ishikawa K, Kobayashi K, Kondo Iida E, Fukayama M, Mizusawa H, et al. Neuronal expression of the fukutin gene. Hum Mol Genet. 2000;9:3083-90 pubmed
    ..The gene responsible for FCMD encodes a novel protein, fukutin, which is likely to be an extracellular protein...
  61. Perry J, Stolk L, Franceschini N, Lunetta K, Zhai G, McArdle P, et al. Meta-analysis of genome-wide association data identifies two loci influencing age at menarche. Nat Genet. 2009;41:648-50 pubmed publisher
    ..The next best signal was near the LIN28B gene (rs7759938; P = 7.0 × 10(-9)), which also influences adult height. We provide the first evidence for common genetic variants influencing female sexual maturation. ..
  62. Toda T. [Fukutin, a novel protein product responsible for Fukuyama-type congenital muscular dystrophy]. Seikagaku. 1999;71:55-61 pubmed