Sequence of GCDH_HUMAN

glutaryl-CoA dehydrogenase (ETF)

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Schwartz M.,Christensen E.,Superti-Furga A.,Brandt N.J.

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The DNA sequence and biology of human chromosome 19.

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The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

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1061803

Hyman D.B.,Tanaka K.

Specific glutaryl-CoA dehydrogenating activity is deficient in cultured fibroblasts from glutaric aciduria patients.

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1061804

Goodman S.I.,Stein D.E.,Schlesinger S.,Christensen E.,Schwartz M.,Greenberg C.R.,Elpeleg O.N.

Glutaryl-CoA dehydrogenase mutations in glutaric acidemia (type I): review and report of thirty novel mutations.

Hum. Mutat.

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1061805

Rao K.S.,Albro M.,Dwyer T.M.,Frerman F.E.

Kinetic mechanism of glutaryl-CoA dehydrogenase.

Biochemistry

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1061806

Burkard T.R.,Planyavsky M.,Kaupe I.,Breitwieser F.P.,Buerckstuemmer T.,Bennett K.L.,Superti-Furga G.,Colinge J.

Initial characterization of the human central proteome.

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1061807

Bian Y.,Song C.,Cheng K.,Dong M.,Wang F.,Huang J.,Sun D.,Wang L.,Ye M.,Zou H.

An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

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1061808

Vaca Jacome A.S.,Rabilloud T.,Schaeffer-Reiss C.,Rompais M.,Ayoub D.,Lane L.,Bairoch A.,Van Dorsselaer A.,Carapito C.

N-terminome analysis of the human mitochondrial proteome.

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1061809

Fu Z.,Wang M.,Paschke R.,Rao K.S.,Frerman F.E.,Kim J.-J.P.

Crystal structures of human glutaryl-CoA dehydrogenase with and without an alternate substrate: structural bases of dehydrogenation and decarboxylation reactions.

Biochemistry

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1061810

Rao K.S.,Fu Z.,Albro M.,Narayanan B.,Baddam S.,Lee H.-J.K.,Kim J.-J.P.,Frerman F.E.

The effect of a Glu370Asp mutation in glutaryl-CoA dehydrogenase on proton transfer to the dienolate intermediate.

Biochemistry

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1061811

Biery B.J.,Stein D.E.,Morton D.H.,Goodman S.I.

Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish.

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1061812

Anikster Y.,Shaag A.,Joseph A.,Mandel H.,Ben-Zeev B.,Christensen E.,Elpeleg O.N.

Glutaric aciduria type I in the Arab and Jewish communities in Israel.

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1061813

Muehlhausen C.,Christensen E.,Schwartz M.,Muschol N.,Ullrich K.,Lukacs Z.

Severe phenotype despite high residual glutaryl-CoA dehydrogenase activity: a novel mutation in a Turkish patient with glutaric aciduria type I.

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1061814

Keyser B.,Muehlhausen C.,Dickmanns A.,Christensen E.,Muschol N.,Ullrich K.,Braulke T.

Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH).

Hum. Mol. Genet.

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1061815

Georgiou T.,Nicolaidou P.,Hadjichristou A.,Ioannou R.,Dionysiou M.,Siama E.,Chappa G.,Anastasiadou V.,Drousiotou A.

Molecular analysis of Cypriot patients with Glutaric aciduria type I: Identification of two novel mutations.

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