Glutaric aciduria type I with high residual glutaryl‐CoA dehydrogenase activity [PDF]
Developmental Medicine & Child Neurology, 1998 Two brothers with dystonia and slight MRI changes in the basal ganglia had normal urinary glutaric acid excretion, but slightly increased 3‐hydioxyglutarate and conjugated glutarate excretions. Both siblings have high residual glutaryl‐CoA dehydrogenase activity, and are compound heterozygotes for two mutations ‐ R227P and V400M ‐ reported to be ...
Manuel Pineda +5 more
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Deglutarylation of glutaryl-CoA dehydrogenase by deacylating enzyme SIRT5 promotes lysine oxidation in mice. [PDF]
J Biol Chem, 2022 Bhatt DP +14 more
europepmc +3 more sources
High-resolution native electrophoresis in-gel activity assay reveals biological insights of medium-chain fatty acyl-CoA dehydrogenase deficiency [PDF]
Scientific ReportsMedium-chain specific acyl-CoA dehydrogenase (MCAD) is a mitochondrial homotetrameric flavoprotein that catalyzes the first step in fatty acid beta-oxidation.
Sergio Guerrero-Castillo +9 more
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Teaching Neuro Images : Glutaric aciduria type 1 (glutaryl-CoA dehydrogenase deficiency) [PDF]
Neurology, 2011 A 14-month-old boy presented with loss of developmental milestones and tonic spasms following a diarrheal illness. He was born to nonconsanguineous parents and had mild motor delays. Examination was remarkable for macrocephaly, axial hypotonia, and asymmetric dystonic posturing of neck, trunk, and extremities. …
Paramdeep Singh +3 more
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Lysine α-ketoglutarate reductase as a therapeutic target for saccharopine pathway related diseases [PDF]
Frontiers in Molecular NeuroscienceThe saccharopine pathway (SacPath) and the pipecolate pathway (PipPath) catabolize lysine to α-aminoadipate. Although the PipPath has been highlighted as the prominent route operating in the brain, recent work has demonstrated that the SacPath plays a ...
Gabriel Vieira Valderrama +6 more
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Mitochondrialer Import und Protein-Protein-Interaktionsnetzwerk varianter Glutaryl-CoA-Dehydrogenase [PDF]
, 2021 Zirka 99 % des mitochondrialen Proteoms sind nukleär kodiert. Mitochondriale Matrixproteine werden als Präkursor-Proteine im Cytosol synthetisiert und post-translational in das Mitochondrium importiert, um dort nach Abspaltung eines Signalpeptids in reife und funktionelle Proteine prozessiert zu werden. Die cytosolischen molekularen Chaperone Hsc70 und
Daniel W. Engels
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Genetic Screening of Selected Disease-Causing Mutations in Glutaryl-CoA Dehydrogenase Gene among Indian Patients with Glutaric Aciduria Type I. [PDF]
J Pediatr Genet, 2017 Tp KV +4 more
europepmc +3 more sources
Intraventricular Baclofen for Treatment of Severe Dystonia Associated with Glutaryl-CoA Dehydrogenase Deficiency (GA1): Report of Two Cases. [PDF]
Mov Disord Clin Pract, 2016 Ghatan S +3 more
europepmc +3 more sources
GCDH Acetylation Orchestrates DNA Damage Response and Autophagy via Mitochondrial ROS to Suppress Hepatocellular Carcinoma Progression [PDF]
ResearchMetabolic enzyme dysregulation promotes hepatocellular carcinoma (HCC) progression through metabolic reprogramming and lysine acetylation. Glutaryl-CoA dehydrogenase (GCDH), a key enzyme in lysine metabolism, has been demonstrated to play an essential ...
Wei Tian +8 more
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