نتائج البحث

Molecular basis of various forms of maple syrup urine disease in Chilean patients.

• Authors : Campanholi DRR; Pediatrics Department, Ribeirão Preto Medical School, University of São Paulo, Ribeirão Preto, Brazil.; Margutti AVB

Subjects: Mutation*; Maple Syrup Urine Disease/Maple Syrup Urine Disease/Maple Syrup Urine Disease/*genetics; 3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)/3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)/3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)/genetics

• Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2021 May; Vol. 9 (5), pp. e1616. Date of Electronic Publication: 2021 May 06.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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A metabolic signature for long life in the Caenorhabditis elegans Mit mutants.

• Authors : Butler JA; Barshop Institute for Longevity and Aging Studies and the Department of Physiology, University of Texas Health Science Center, San Antonio, TX 78240, USA.; Mishur RJ

Subjects: Mutation*; Caenorhabditis elegans/Caenorhabditis elegans/Caenorhabditis elegans/*physiology ; Caenorhabditis elegans Proteins/Caenorhabditis elegans Proteins/Caenorhabditis elegans Proteins/*genetics

• Source: Aging cell [Aging Cell] 2013 Feb; Vol. 12 (1), pp. 130-8.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101130839 Publication Model: Print Cited Medium: Internet ISSN: 1474-9726

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Progressive abnormalities in skeletal muscle and neuromuscular junctions of transgenic mice expressing the Huntington's disease mutation.

• Authors : Ribchester RR; Division of Neuroscience, University of Edinburgh, George Square, Edinburgh EH8 9JZ, UK.; Thomson D

Subjects: Huntington Disease*/Huntington Disease*/Huntington Disease*/genetics ; Huntington Disease*/Huntington Disease*/Huntington Disease*/pathology ; Huntington Disease*/Huntington Disease*/Huntington Disease*/physiopathology

• Source: The European journal of neuroscience [Eur J Neurosci] 2004 Dec; Vol. 20 (11), pp. 3092-114.Publisher: Wiley-Blackwell Country of Publication: France NLM ID: 8918110 Publication Model: Print Cited Medium: Print ISSN: 0953-816X (Print)

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Maternal enzyme masks the phenotype of mouse embryos lacking dihydrolipoamide dehydrogenase.

• Authors : Johnson, M. T.^1,2,3 ; Vang, P.⁴; Filipovits, J.^5,6

• Source: Reproductive BioMedicine Online (Reproductive Healthcare Limited). Jul2009, Vol. 19 Issue 1, p79-88. 10p.

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The Effects of a Ketogenic Diet on Patients with Dihydrolipoamide Dehydrogenase Deficiency

• Authors : Eyal Kristal; Smadar Abraham; Ohad Wormser

Subjects: Male; medicine.medical_specialty; Adolescent

• Source: NutrientsVolume 13Issue 10Nutrients, Vol 13, Iss 3523, p 3523 (2021)

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Underlying molecular alterations in human dihydrolipoamide dehydrogenase deficiency revealed by structural analyses of disease-causing enzyme variants

• Authors : Frank Jordan; Palaniappa Arjunan; Andrzej Weichsel

Subjects: Protein Conformation; medicine.disease_cause; 03 medical and health sciences

• Source: Hum Mol Genet

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Attenuation of radiation toxicity by the phosphine resistance factor dihydrolipoamide dehydrogenase (DLD)

• Authors : Paul R. Ebert; Saad M. Alzahrani

Subjects: 0301 basic medicine; DNA Repair; Phosphines

• Source: Scientific Reports, Vol 9, Iss 1, Pp 1-9 (2019)

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Structural alterations by five disease-causing mutations in the low-pH conformation of human dihydrolipoamide dehydrogenase (hLADH) analyzed by molecular dynamics – Implications in functional loss and modulation of reactive oxygen species generation by pathogenic hLADH forms

• Authors : Attila Ambrus; Vera Adam-Vizi; Réka Mizsei

Subjects: α-KGDHc, alpha-ketoglutarate dehydrogenase complex; Mutant; Biophysics

• Source: Biochemistry and Biophysics Reports

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Mutations in the Dimer Interface of Dihydrolipoamide Dehydrogenase Promote Site-specific Oxidative Damages in Yeast and Human Cells

• Authors : Grazia Isaya; Pierre Rustin; Rachael A. Vaubel

Subjects: Male; Saccharomyces cerevisiae Proteins; Mutation, Missense

• Source: Journal of Biological Chemistry. 286:40232-40245

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Maternal enzyme masks the phenotype of mouse embryos lacking dihydrolipoamide dehydrogenase

• Authors : Pa Vang; Mark Johnson; J. Filipovits

Subjects: Genotype; Embryonic Development; Biology

• Source: Reproductive BioMedicine Online. 19:79-88

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