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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الوظيفة
المراجع
- Gauldie J، Bhandari SC، Singal DP (أبريل 1976). "Alteration of the HL-A antigenic site in situ". Immunol Commun. ج. 4 ع. 5: 465–76. DOI:10.3109/08820137509057334. PMID:54332.
- "Entrez Gene: GDAP1 ganglioside-induced differentiation-associated protein 1". مؤرشف من الأصل في 2010-03-06.
قراءة متعمقة
- Liu H، Nakagawa T، Kanematsu T، وآخرون (1999). "Isolation of 10 differentially expressed cDNAs in differentiated Neuro2a cells induced through controlled expression of the GD3 synthase gene". J. Neurochem. ج. 72 ع. 5: 1781–90. DOI:10.1046/j.1471-4159.1999.0721781.x. PMID:10217254.
- Brockington M، Blake DJ، Prandini P، وآخرون (2002). "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. ج. 69 ع. 6: 1198–209. DOI:10.1086/324412. PMC:1235559. PMID:11592034.
- Baxter RV، Ben Othmane K، Rochelle JM، وآخرون (2002). "Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21". Nat. Genet. ج. 30 ع. 1: 21–2. DOI:10.1038/ng796. PMID:11743579.
- Cuesta A، Pedrola L، Sevilla T، وآخرون (2002). "The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease". Nat. Genet. ج. 30 ع. 1: 22–5. DOI:10.1038/ng798. PMID:11743580.
- Strausberg RL، Feingold EA، Grouse LH، وآخرون (2003). "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. ج. 99 ع. 26: 16899–903. DOI:10.1073/pnas.242603899. PMC:139241. PMID:12477932.
- Nelis E، Erdem S، Van Den Bergh PY، وآخرون (2003). "Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy". Neurology. ج. 59 ع. 12: 1865–72. DOI:10.1212/01.wnl.0000036272.36047.54. PMID:12499475.
- Senderek J، Bergmann C، Ramaekers VT، وآخرون (2003). "Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy". Brain. ج. 126 ع. Pt 3: 642–9. DOI:10.1093/brain/awg068. PMID:12566285.
- Boerkoel CF، Takashima H، Nakagawa M، وآخرون (2003). "CMT4A: identification of a Hispanic GDAP1 founder mutation". Ann. Neurol. ج. 53 ع. 3: 400–5. DOI:10.1002/ana.10505. PMID:12601710.
- Birouk N، Azzedine H، Dubourg O، وآخرون (2003). "Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene". Arch. Neurol. ج. 60 ع. 4: 598–604. DOI:10.1001/archneur.60.4.598. PMID:12707075.
- Azzedine H، Ruberg M، Ente D، وآخرون (2003). "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. ج. 13 ع. 4: 341–6. DOI:10.1016/S0960-8966(02)00281-X. PMID:12868504.
- Ammar N، Nelis E، Merlini L، وآخرون (2003). "Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease". Neuromuscul. Disord. ج. 13 ع. 9: 720–8. DOI:10.1016/S0960-8966(03)00093-2. PMID:14561495.
- Stojkovic T، Latour P، Viet G، وآخرون (2004). "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. ج. 14 ع. 4: 261–4. DOI:10.1016/j.nmd.2004.01.003. PMID:15019704.
- Gerhard DS، Wagner L، Feingold EA، وآخرون (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. ج. 14 ع. 10B: 2121–7. DOI:10.1101/gr.2596504. PMC:528928. PMID:15489334.
- Pedrola L، Espert A، Wu X، وآخرون (2005). "GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria". Hum. Mol. Genet. ج. 14 ع. 8: 1087–94. DOI:10.1093/hmg/ddi121. PMID:15772096.
- Claramunt R، Pedrola L، Sevilla T، وآخرون (2006). "Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect". J. Med. Genet. ج. 42 ع. 4: 358–65. DOI:10.1136/jmg.2004.022178. PMC:1736030. PMID:15805163.
- Kabzińska D، Kochański A، Drac H، وآخرون (2006). "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. ج. 241 ع. 1–2: 7–11. DOI:10.1016/j.jns.2005.10.002. PMID:16343542.
- Biancheri R، Zara F، Striano P، وآخرون (2007). "GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features". J. Neurol. ج. 253 ع. 9: 1234–5. DOI:10.1007/s00415-006-0149-4. PMID:16607474.
- Shield AJ، Murray TP، Board PG (2006). "Functional characterisation of ganglioside-induced differentiation-associated protein 1 as a glutathione transferase". Biochem. Biophys. Res. Commun. ج. 347 ع. 4: 859–66. DOI:10.1016/j.bbrc.2006.06.189. PMID:16857173.
- Baránková L، Vyhnálková E، Züchner S، وآخرون (2007). "GDAP1 mutations in Czech families with early-onset CMT". Neuromuscul. Disord. ج. 17 ع. 6: 482–9. DOI:10.1016/j.nmd.2007.02.010. PMID:17433678.
بوابة الكيمياء الحيوية
بوابة علم الأحياء الخلوي والجزيئي
بوابة طب
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