GDAP1
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.
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معرفات كيميائية:  قاعدة بيانات التتابع المرجعي (RefSeq RNA): XM_047421902  
| ع ن جينات الكروموسوم 8 | ع ن جينات الكروموسوم 8 |
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جينات الكروموسوم 8:  CNOT7  DEFA5  MRPL15  TTC35  RB1CC1  TCIM  MTMR9  PLEKHF2  MTUS1  TTI2  GTF2E2  Neurocalcin  CSMD1  ZHX1  MTSS1  STAU2  TONSL  DEFA6  DDEF1  STMN2  ZHX2  LACTB2  TPD52  FBXO32  INTS9  DEFB103A  HOOK3  ZNF7  RALYL  PLAG1  SNTG1  DEPTOR  RAB11FIP1  EXTL3  AZIN1  LY6E  KCNU1  RAD21  TRMT12  PMP2  FGF20  RRS1  SGCZ  KIAA1967  ERLIN2  NEFM  RSPO2  EEF1D  EPB49  ODF1  KHDRBS3  MRPS28  C8orf58  BAG4  BOP1  ZNF707  TCEA1  POLR2K  HEY1  RAD54B  CHMP4C  YTHDF3  PREX2  E2F5  EXT1  SNTB1  CHRNA6  TMEM66  RNF139  Syndecan-2  GPIHBP1  KLF10  KCTD9  ARHGEF10  PSD3  PUF60  DCC1  VCPIP1  PHYHIP  Syntenin-1  EGR3  TOX  TUSC3  VPS28  ATP6V0D2  PKIA  LSM1  GSDMC  GRINA  SOX7  RGS20  ZNF16  TRIM55  RP1  MAF1  PNMA2  SLURP1  ELP3  SH2D4A  SORBS3  TRAPPC9  TMEM67  PURG  RAB2A  DEFA1  PDLIM2  ARFGEF1  VPS37A  OXR1  CDH17  RNF122  FGF17  CYC1  HMBOX1  RBPMS  GPAA1  TP53INP1  RHOBTB2  GDAP1  EYA1  LZTS1  PAG1  SNHG6  OTUD6B  GDF6  DEFA1B  SOX17  TAF2  LOC642658  FGL1  EIF3H  EIF3S6  FOXH1  JPH1  INTS8  CPSF1  FABP9  ANGPT2  DLGAP2  UBE2V2  DOK2  PRSS55  DEFA3  Matrilin-2  Dock5  EIF2C2  Derlin-1  MAK16  BNIP3L 
بوابة الكيمياء الحيوية
بوابة علم الأحياء الخلوي والجزيئي
بوابة طب
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التصنيفات الطبية:  دليل الوراثة المندلية عند البشر (OMIM): 606598  
المعرفات الخارجية:  Ensembl Transcript ID: ENST00000674612  نظام اللغة الطبية الموحدة (UMLS CUI): C1423872