- GDAP1
Ganglioside-induced differentiation-associated protein 1, also known as GDAP1, is a human
gene .cite web | title = Entrez Gene: GDAP1 ganglioside-induced differentiation-associated protein 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=54332| accessdate = ]PBB_Summary
section_title =
summary_text = This gene encodes a member of the ganglioside-induced differentiation-associated protein family, which may play a role in a signal transduction pathway during neuronal development. Mutations in this gene have been associated with various forms of Charcot-Marie-Tooth Disease and neuropathy. Two transcript variants encoding different isoforms have been identified for this gene.cite web | title = Entrez Gene: GDAP1 ganglioside-induced differentiation-associated protein 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=54332| accessdate = ]References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Gauldie J, Bhandari SC, Singal DP |title=Alteration of the HL-A antigenic site in situ. |journal=Immunol. Commun. |volume=4 |issue= 5 |pages= 465–76 |year= 1976 |pmid= 54332 |doi=
*cite journal | author=Liu H, Nakagawa T, Kanematsu T, "et al." |title=Isolation of 10 differentially expressed cDNAs in differentiated Neuro2a cells induced through controlled expression of the GD3 synthase gene. |journal=J. Neurochem. |volume=72 |issue= 5 |pages= 1781–90 |year= 1999 |pmid= 10217254 |doi=
*cite journal | author=Brockington M, Blake DJ, Prandini P, "et al." |title=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. |journal=Am. J. Hum. Genet. |volume=69 |issue= 6 |pages= 1198–209 |year= 2002 |pmid= 11592034 |doi=
*cite journal | author=Baxter RV, Ben Othmane K, Rochelle JM, "et al." |title=Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. |journal=Nat. Genet. |volume=30 |issue= 1 |pages= 21–2 |year= 2002 |pmid= 11743579 |doi= 10.1038/ng796
*cite journal | author=Cuesta A, Pedrola L, Sevilla T, "et al." |title=The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease. |journal=Nat. Genet. |volume=30 |issue= 1 |pages= 22–5 |year= 2002 |pmid= 11743580 |doi= 10.1038/ng798
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Nelis E, Erdem S, Van Den Bergh PY, "et al." |title=Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy. |journal=Neurology |volume=59 |issue= 12 |pages= 1865–72 |year= 2003 |pmid= 12499475 |doi=
*cite journal | author=Senderek J, Bergmann C, Ramaekers VT, "et al." |title=Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy. |journal=Brain |volume=126 |issue= Pt 3 |pages= 642–9 |year= 2003 |pmid= 12566285 |doi=
*cite journal | author=Boerkoel CF, Takashima H, Nakagawa M, "et al." |title=CMT4A: identification of a Hispanic GDAP1 founder mutation. |journal=Ann. Neurol. |volume=53 |issue= 3 |pages= 400–5 |year= 2003 |pmid= 12601710 |doi= 10.1002/ana.10505
*cite journal | author=Birouk N, Azzedine H, Dubourg O, "et al." |title=Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene. |journal=Arch. Neurol. |volume=60 |issue= 4 |pages= 598–604 |year= 2003 |pmid= 12707075 |doi= 10.1001/archneur.60.4.598
*cite journal | author=Azzedine H, Ruberg M, Ente D, "et al." |title=Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene. |journal=Neuromuscul. Disord. |volume=13 |issue= 4 |pages= 341–6 |year= 2003 |pmid= 12868504 |doi=
*cite journal | author=Ammar N, Nelis E, Merlini L, "et al." |title=Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease. |journal=Neuromuscul. Disord. |volume=13 |issue= 9 |pages= 720–8 |year= 2003 |pmid= 14561495 |doi=
*cite journal | author=Stojkovic T, Latour P, Viet G, "et al." |title=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. |journal=Neuromuscul. Disord. |volume=14 |issue= 4 |pages= 261–4 |year= 2004 |pmid= 15019704 |doi= 10.1016/j.nmd.2004.01.003
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Pedrola L, Espert A, Wu X, "et al." |title=GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria. |journal=Hum. Mol. Genet. |volume=14 |issue= 8 |pages= 1087–94 |year= 2005 |pmid= 15772096 |doi= 10.1093/hmg/ddi121
*cite journal | author=Claramunt R, Pedrola L, Sevilla T, "et al." |title=Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect. |journal=J. Med. Genet. |volume=42 |issue= 4 |pages= 358–65 |year= 2006 |pmid= 15805163 |doi= 10.1136/jmg.2004.022178
*cite journal | author=Kabzińska D, Kochański A, Drac H, "et al." |title=A novel Met116Thr mutation in the GDAP1 gene in a Polish family with the axonal recessive Charcot-Marie-Tooth type 4 disease. |journal=J. Neurol. Sci. |volume=241 |issue= 1-2 |pages= 7–11 |year= 2006 |pmid= 16343542 |doi= 10.1016/j.jns.2005.10.002
*cite journal | author=Biancheri R, Zara F, Striano P, "et al." |title=GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features. |journal=J. Neurol. |volume=253 |issue= 9 |pages= 1234–5 |year= 2007 |pmid= 16607474 |doi= 10.1007/s00415-006-0149-4
*cite journal | author=Shield AJ, Murray TP, Board PG |title=Functional characterisation of ganglioside-induced differentiation-associated protein 1 as a glutathione transferase. |journal=Biochem. Biophys. Res. Commun. |volume=347 |issue= 4 |pages= 859–66 |year= 2006 |pmid= 16857173 |doi= 10.1016/j.bbrc.2006.06.189
*cite journal | author=Baránková L, Vyhnálková E, Züchner S, "et al." |title=GDAP1 mutations in Czech families with early-onset CMT. |journal=Neuromuscul. Disord. |volume=17 |issue= 6 |pages= 482–9 |year= 2007 |pmid= 17433678 |doi= 10.1016/j.nmd.2007.02.010PBB_Controls
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