• mitochondrial fusion • protein targeting to mitochondrion • response to retinoic acid • mitochondrial fission • cellular response to vitamin D • glutathione metabolic process • mitochondrion organization
GDAP1 (Ganglioside induced differentiation associated protein 1) هوَ بروتين يُشَفر بواسطة جين GDAP1 في الإنسان.
الوظيفة
هذا القسم فارغ أوغير مكتمل، ساهم بتحريره.
الأهمية السريرية
هذا القسم فارغ أوغير مكتمل، ساهم بتحريره.
المراجع
^Gauldie J, Bhandari SC, Singal DP (Apr 1976). "Alteration of the HL-A antigenic site in situ". Immunol Commun. 4 (5): 465–76. doi:10.3109/08820137509057334. PMID 54332.
^"Entrez Gene: GDAP1 ganglioside-induced differentiation-associated protein 1". مؤرشف من الأصل فيستة مارس 2010.
قراءة متعمقة
Liu H, Nakagawa T, Kanematsu T, et al. (1999). "Isolation ofعشرة differentially expressed cDNAs in differentiated Neuro2a cells induced through controlled expression of the GD3 synthase gene". J. Neurochem. 72 (5): 1781–90. doi:10.1046/j.1471-4159.1999.0721781.x. PMID 10217254.
Brockington M, Blake DJ, Prandini P, et al. (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. 69 (6): 1198–209. doi:10.1086/324412. PMC 1235559. PMID 11592034.
Baxter RV, Ben Othmane K, Rochelle JM, et al. (2002). "Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21". Nat. Genet. 30 (1): 21–2. doi:10.1038/ng796. PMID 11743579.
Cuesta A, Pedrola L, Sevilla T, et al. (2002). "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. doi:10.1038/ng798. PMID 11743580.
Strausberg RL, Feingold EA, Grouse LH, et al. (2003). "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. doi:10.1073/pnas.242603899. PMC 139241. PMID 12477932.
Nelis E, Erdem S, Van Den Bergh PY, et al. (2003). "Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy". Neurology. 59 (12): 1865–72. doi:10.1212/01.wnl.0000036272.36047.54. PMID 12499475.
Senderek J, Bergmann C, Ramaekers VT, et al. (2003). "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. doi:10.1093/brain/awg068. PMID 12566285.
Boerkoel CF, Takashima H, Nakagawa M, et al. (2003). "CMT4A: identification of a Hispanic GDAP1 founder mutation". Ann. Neurol. 53 (3): 400–5. doi:10.1002/ana.10505. PMID 12601710.
Birouk N, Azzedine H, Dubourg O, et al. (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. 60 (4): 598–604. doi:10.1001/archneur.60.4.598. PMID 12707075.
Azzedine H, Ruberg M, Ente D, et al. (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. 13 (4): 341–6. doi:10.1016/S0960-8966(02)00281-X. PMID 12868504.
Ammar N, Nelis E, Merlini L, et al. (2003). "Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease". Neuromuscul. Disord. 13 (9): 720–8. doi:10.1016/S0960-8966(03)00093-2. PMID 14561495.
Stojkovic T, Latour P, Viet G, et al. (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. 14 (4): 261–4. doi:10.1016/j.nmd.2004.01.003. PMID 15019704.
Gerhard DS, Wagner L, Feingold EA, et al. (2004). "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)". Genome Res. 14 (10B): 2121–7. doi:10.1101/gr.2596504. PMC 528928. PMID 15489334.
Pedrola L, Espert A, Wu X, et al. (2005). "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. doi:10.1093/hmg/ddi121. PMID 15772096.
Claramunt R, Pedrola L, Sevilla T, et al. (2006). "Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect". J. Med. Genet. 42 (4): 358–65. doi:10.1136/jmg.2004.022178. PMC 1736030. PMID 15805163.
Kabzińska D, Kochański A, Drac H, et al. (2006). "A novel Met116Thr mutation in the GDAP1 gene in a Polish family with the axonal recessive Charcot-Marie-Tooth type أربعة disease". J. Neurol. Sci. 241 (1–2): 7–11. doi:10.1016/j.jns.2005.10.002. PMID 16343542.
Biancheri R, Zara F, Striano P, et al. (2007). "GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features". J. Neurol. 253 (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. 347 (4): 859–66. doi:10.1016/j.bbrc.2006.06.189. PMID 16857173.
Baránková L, Vyhnálková E, Züchner S, et al. (2007). "GDAP1 mutations in Czech families with early-onset CMT". Neuromuscul. Disord. 17 (6): 482–9. doi:10.1016/j.nmd.2007.02.010. PMID 17433678.
تاريخ النشر:
2020-06-02 13:02:43
التصنيفات:
جينات على كروموسوم 8, صفحات تستعمل قالبا ببيانات مكررة, مقالات بها أقسام فارغة منذ يوليو 2018, جميع المقالات التي بها أقسام فارغة, صفحات بها بيانات ويكي بيانات, صفحات تستخدم خاصية P639, معرفات مركب كيميائي, بوابة الكيمياء الحيوية/مقالات متعلقة, بوابة علم الأحياء الخلوي والجزيئي/مقالات متعلقة, بوابة طب/مقالات متعلقة, جميع المقالات التي تستخدم شريط بوابات, جميع مقالات البذور, بذرة جين على كروموسوم 8
