THE M405V ALLELE OF THE GLUTARYL-CoA DEHYDROGENASE GENE IS COMMON AMONG MANY GLUTARIC ACIDURIA TYPE I (GA-I) LOW EXCRETORS

被引：0

作者：

Schillaci, Lori-Anne ^{[1
]}

Greene, Carol ^{[2
]}

Strovel, Erin ^{[2
]}

Rispoli-Joines, Jessica ^{[2
]}

Spector, Elaine ^{[3
]}

Woontner, Michael ^{[3
]}

Scharer, Gunter ^{[3
]}

Enns, Gregory ^{[4
]}

Gallagher, Renata ^{[5
]}

Zinn, Arthur ^{[1
,7
]}

McCandless, Shawn ^{[1
,6
,7
]}

Hoppel, Charles ^{[1
,8
,9
]}

Goodman, Stephen ^{[3
]}

Bedoyan, Jirair ^{[1
,6
,7
]}

机构：

[1] Univ Hosp Case Med Ctr, Ctr Human Genet, Cleveland, OH USA

[2] Univ Maryland, Dept Pediat, Baltimore, MD 21201 USA

[3] Univ Colorado, Sch Med, Dept Pediat, Denver, CO USA

[4] Stanford Univ, Sch Med, Dept Pediat, Div Genet, Stanford, CA 94305 USA

[5] Univ Calif San Francisco, Dept Pediat, San Francisco, CA USA

[6] Case Western Reserve Univ, Genet & Genome Sci, Cleveland, OH 44106 USA

[7] Univ Hosp Case Med Ctr, CIDEM, Cleveland, OH USA

[8] Case Western Reserve Univ, Dept Pharmacol, Cleveland, OH 44106 USA

[9] Case Western Reserve Univ, Dept Med, Cleveland, OH 44106 USA

来源：

MOLECULAR GENETICS AND METABOLISM | 2016年 / 117卷 / 03期

关键词：

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

100

引用

页码：283 / 283

页数：1

共 30 条

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[22] Reduction of Na+, K+-ATPase activity and expression in cerebral cortex of glutaryl-CoA dehydrogenase deficient mice: A possible mechanism for brain injury in glutaric aciduria type I
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[23] Higher Vulnerability of Menadione-Exposed Cortical Astrocytes of Glutaryl-CoA Dehydrogenase Deficient Mice to Oxidative Stress, Mitochondrial Dysfunction, and Cell Death: Implications for the Neurodegeneration in Glutaric Aciduria Type I
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MOLECULAR NEUROBIOLOGY, 2017, 54 (06) : 4795 - 4805
[24] Higher Vulnerability of Menadione-Exposed Cortical Astrocytes of Glutaryl-CoA Dehydrogenase Deficient Mice to Oxidative Stress, Mitochondrial Dysfunction, and Cell Death: Implications for the Neurodegeneration in Glutaric Aciduria Type I
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[25] Disturbance of the glutamatergic system by glutaric acid in striatum and cerebral cortex of glutaryl-CoA dehydrogenase-deficient knockout mice: Possible implications for the neuropathology of glutaric acidemia type I
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JOURNAL OF THE NEUROLOGICAL SCIENCES, 2014, 346 (1-2) : 260 - 267
[26] Oxidative Stress, Disrupted Energy Metabolism, and Altered Signaling Pathways in Glutaryl-CoA Dehydrogenase Knockout Mice: Potential Implications of Quinolinic Acid Toxicity in the Neuropathology of Glutaric Acidemia Type I
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[27] Oxidative Stress, Disrupted Energy Metabolism, and Altered Signaling Pathways in Glutaryl-CoA Dehydrogenase Knockout Mice: Potential Implications of Quinolinic Acid Toxicity in the Neuropathology of Glutaric Acidemia Type I
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[28] REDUCED RISK OF WHITE MATTER INJURY ON CEREBRAL MRI AND NEUROPATHOLOGY IN GLUTARIC ACIDEMIA TYPE I PATIENTS HOMOZYGOUS FOR THE GLUTARYL-COA DEHYDROGENASE IVS-1+5 G>T MUTATION
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JOURNAL OF INHERITED METABOLIC DISEASE, 2011, 34 : S140 - S140
[29] A G-TO-T TRANSVERSION AT THE +5-POSITION OF INTRON-1 IN THE GLUTARYL COA DEHYDROGENASE GENE IS ASSOCIATED WITH THE ISLAND LAKE VARIANT OF GLUTARIC ACIDEMIA TYPE-I
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HUMAN MOLECULAR GENETICS, 1995, 4 (03) : 493 - 495
[30] 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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