GDAP1
GDAP1 (Ganglioside induced differentiation associated protein 1) هوَ بروتين يُشَفر بواسطة جين GDAP1 في الإنسان.[1][2]
| GDAP1 | |||||||||||||||||
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| المعرفات | |||||||||||||||||
| الأسماء المستعارة | GDAP1, CMT4, CMT4A, CMTRIA, ganglioside induced differentiation associated protein 1 | ||||||||||||||||
| معرفات خارجية | الوراثة المندلية البشرية عبر الإنترنت 606598 MGI: MGI:1338002 HomoloGene: 40713 GeneCards: 54332 | ||||||||||||||||
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| نمط التعبير عن الحمض النووي الريبوزي | |||||||||||||||||
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| المزيد من بيانات التعبير المرجعية | |||||||||||||||||
| أورثولوج | |||||||||||||||||
| الأنواع | الإنسان | الفأر | |||||||||||||||
| أنتريه | 54332 | 14545 | |||||||||||||||
| Ensembl | ENSG00000104381 | ENSMUSG00000025777 | |||||||||||||||
| يونيبروت | |||||||||||||||||
| RefSeq (مرسال ر.ن.ا.) | |||||||||||||||||
| RefSeq (بروتين) | |||||||||||||||||
| الموقع (UCSC | n/a | Chr 1: 17.22 – 17.23 Mb | |||||||||||||||
| بحث ببمد | |||||||||||||||||
| ويكي بيانات | |||||||||||||||||
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المراجع
- "Alteration of the HL-A antigenic site in situ"، Immunol Commun، 4 (5): 465–76، أبريل 1976، doi:10.3109/08820137509057334، PMID 54332.
- "Entrez Gene: GDAP1 ganglioside-induced differentiation-associated protein 1"، مؤرشف من الأصل في 6 مارس 2010.
قراءة متعمقة
- "Isolation of 10 differentially expressed cDNAs in differentiated Neuro2a cells induced through controlled expression of the GD3 synthase gene"، J. Neurochem.، 72 (5): 1781–90، 1999، doi:10.1046/j.1471-4159.1999.0721781.x، PMID 10217254.
- "Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan"، Am. J. Hum. Genet.، 69 (6): 1198–209، 2002، doi:10.1086/324412، PMC 1235559، PMID 11592034.
- "Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21"، Nat. Genet.، 30 (1): 21–2، 2002، doi:10.1038/ng796، PMID 11743579.
- "The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease"، Nat. Genet.، 30 (1): 22–5، 2002، doi:10.1038/ng798، PMID 11743580.
- "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences"، Proc. Natl. Acad. Sci. U.S.A.، 99 (26): 16899–903، 2003، doi:10.1073/pnas.242603899، PMC 139241، PMID 12477932.
- "Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy"، Neurology، 59 (12): 1865–72، 2003، doi:10.1212/01.wnl.0000036272.36047.54، PMID 12499475.
- "Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy"، Brain، 126 (Pt 3): 642–9، 2003، doi:10.1093/brain/awg068، PMID 12566285.
- "CMT4A: identification of a Hispanic GDAP1 founder mutation"، Ann. Neurol.، 53 (3): 400–5، 2003، doi:10.1002/ana.10505، PMID 12601710.
- "Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene"، Arch. Neurol.، 60 (4): 598–604، 2003، doi:10.1001/archneur.60.4.598، PMID 12707075.
- "Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene"، Neuromuscul. Disord.، 13 (4): 341–6، 2003، doi:10.1016/S0960-8966(02)00281-X، PMID 12868504.
- "Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease"، Neuromuscul. Disord.، 13 (9): 720–8، 2003، doi:10.1016/S0960-8966(03)00093-2، PMID 14561495.
- "Vocal cord and diaphragm paralysis, as clinical features of a French family with autosomal recessive Charcot-Marie-Tooth disease, associated with a new mutation in the GDAP1 gene"، Neuromuscul. Disord.، 14 (4): 261–4، 2004، doi:10.1016/j.nmd.2004.01.003، PMID 15019704.
- "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)"، Genome Res.، 14 (10B): 2121–7، 2004، doi:10.1101/gr.2596504، PMC 528928، PMID 15489334.
- "GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria"، Hum. Mol. Genet.، 14 (8): 1087–94، 2005، doi:10.1093/hmg/ddi121، PMID 15772096.
- "Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect"، J. Med. Genet.، 42 (4): 358–65، 2006، doi:10.1136/jmg.2004.022178، PMC 1736030، PMID 15805163.
- "A novel Met116Thr mutation in the GDAP1 gene in a Polish family with the axonal recessive Charcot-Marie-Tooth type 4 disease"، J. Neurol. Sci.، 241 (1–2): 7–11، 2006، doi:10.1016/j.jns.2005.10.002، PMID 16343542.
- "GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features"، J. Neurol.، 253 (9): 1234–5، 2007، doi:10.1007/s00415-006-0149-4، PMID 16607474.
- "Functional characterisation of ganglioside-induced differentiation-associated protein 1 as a glutathione transferase"، Biochem. Biophys. Res. Commun.، 347 (4): 859–66، 2006، doi:10.1016/j.bbrc.2006.06.189، PMID 16857173.
- "GDAP1 mutations in Czech families with early-onset CMT"، Neuromuscul. Disord.، 17 (6): 482–9، 2007، doi:10.1016/j.nmd.2007.02.010، PMID 17433678.
بوابة الكيمياء الحيوية
بوابة علم الأحياء الخلوي والجزيئي
بوابة طب
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