Gene Review:
GDAP1 - ganglioside induced differentiation...
Homo sapiens
Synonyms:
CMT4, CMT4A, CMTRIA, Ganglioside-induced differentiation-associated protein 1
- The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease. Cuesta, A., Pedrola, L., Sevilla, T., García-Planells, J., Chumillas, M.J., Mayordomo, F., LeGuern, E., Marín, I., Vílchez, J.J., Palau, F. Nat. Genet. (2002)
- GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria. Pedrola, L., Espert, A., Wu, X., Claramunt, R., Shy, M.E., Palau, F. Hum. Mol. Genet. (2005)
- Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy. Senderek, J., Bergmann, C., Ramaekers, V.T., Nelis, E., Bernert, G., Makowski, A., Züchner, S., De Jonghe, P., Rudnik-Schöneborn, S., Zerres, K., Schröder, J.M. Brain (2003)
- Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene. Azzedine, H., Ruberg, M., Ente, D., Gilardeau, C., Périé, S., Wechsler, B., Brice, A., LeGuern, E., Dubourg, O. Neuromuscul. Disord. (2003)
- Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21. Baxter, R.V., Ben Othmane, K., Rochelle, J.M., Stajich, J.E., Hulette, C., Dew-Knight, S., Hentati, F., Ben Hamida, M., Bel, S., Stenger, J.E., Gilbert, J.R., Pericak-Vance, M.A., Vance, J.M. Nat. Genet. (2002)
- Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease. Niemann, A., Ruegg, M., La Padula, V., Schenone, A., Suter, U. J. Cell Biol. (2005)
- CMT4A: identification of a Hispanic GDAP1 founder mutation. Boerkoel, C.F., Takashima, H., Nakagawa, M., Izumo, S., Armstrong, D., Butler, I., Mancias, P., Papasozomenos, S.C., Stern, L.Z., Lupski, J.R. Ann. Neurol. (2003)
- Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q. Ben Othmane, K., Hentati, F., Lennon, F., Ben Hamida, C., Blel, S., Roses, A.D., Pericak-Vance, M.A., Ben Hamida, M., Vance, J.M. Hum. Mol. Genet. (1993)
- Early onset Charcot-Marie-Tooth disease caused by a homozygous Leu239Phe mutation in the GDAP1 gene. Kabzinska, D., Drac, H., Rowinska-Marcinska, K., Fidzianska, A., Kochanskii, A., Hausmanowa-Petrusewicz, I. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases. (2006)
- Evolutionary and structural analyses of GDAP1, involved in Charcot-Marie-Tooth disease, characterize a novel class of glutathione transferase-related genes. Marco, A., Cuesta, A., Pedrola, L., Palau, F., Marín, I. Mol. Biol. Evol. (2004)
- Versatile fluorescent derivatization of glycans for glycomic analysis. Xia, B., Kawar, Z.S., Ju, T., Alvarez, R.A., Sachdev, G.P., Cummings, R.D. Nat. Methods (2005)
- Molecular cell biology of Charcot-Marie-Tooth disease. Berger, P., Young, P., Suter, U. Neurogenetics (2002)
- Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease. Niemann, A., Berger, P., Suter, U. Neuromolecular Med. (2006)
- Physical and genetic mapping of the CMT4A locus and exclusion of PMP-2 as the defect in CMT4A. Othmane, K.B., Loeb, D., Hayworth-Hodgte, R., Hentati, F., Rao, N., Roses, A.D., Ben Hamida, M., Pericak-Vance, M.A., Vance, J.M. Genomics (1995)
- 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. Stojkovic, T., Latour, P., Viet, G., de Seze, J., Hurtevent, J.F., Vandenberghe, A., Vermersch, P. Neuromuscul. Disord. (2004)
- Functional characterisation of ganglioside-induced differentiation-associated protein 1 as a glutathione transferase. Shield, A.J., Murray, T.P., Board, P.G. Biochem. Biophys. Res. Commun. (2006)
- Differential regulation of gene expression by ovariectomy in mouse aorta. Villablanca, A.C., Lewis, K.A., Tham, D., Rutledge, J.C. Physiol. Genomics (2003)