Any feedback?
Please rate this page
(enzyme.php)
(0/150)

BRENDA support

Disease on EC 6.2.1.5 - succinate-CoA ligase (ADP-forming) and Organism(s) Homo sapiens and UniProt Accession P53597

Please use the Disease Search for a specific query.
Please wait a moment until all data is loaded. This message will disappear when all data is loaded.
DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Acidosis, Lactic
Neonatal lactic acidosis with methylmalonic aciduria by novel mutations in the SUCLG1 gene.
Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion.
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.
Anemia, Sideroblastic
Interaction between succinyl CoA synthetase and the heme-biosynthetic enzyme ALAS-E is disrupted in sideroblastic anemia.
Cardiomyopathy, Hypertrophic
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.
Crohn Disease
Influences of XDH genotype by gene-gene interactions with SUCLA2 for thiopurine-induced leukopenia in Korean patients with Crohn's disease.
Deafness
A Novel SUCLA2 Mutation Presenting as a Complex Childhood Movement Disorder.
Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy.
Disorders caused by deficiency of succinate-CoA ligase.
Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children.
Exclusive neuronal expression of SUCLA2 in the human brain.
Novel mutation in SUCLA2 identified on sequencing analysis.
SUCLA2 Arg407Trp mutation can cause a nonprogressive movement disorder - deafness syndrome.
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.
Down Syndrome
Co-occurring Down syndrome and SUCLA2-related mitochondrial depletion syndrome.
Dystonia
Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy.
Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children.
Exclusive neuronal expression of SUCLA2 in the human brain.
Novel mutation in SUCLA2 identified on sequencing analysis.
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.
Epilepsy
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.
Leukopenia
Influences of XDH genotype by gene-gene interactions with SUCLA2 for thiopurine-induced leukopenia in Korean patients with Crohn's disease.
Mitochondrial Diseases
Exclusive neuronal expression of SUCLA2 in the human brain.
Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion.
Novel mutation in SUCLA2 identified on sequencing analysis.
SUCLA2 mutations cause global protein succinylation contributing to the pathomechanism of a hereditary mitochondrial disease.
[Diagnosis of mitochondrial disorders in children with next generation sequencing].
Mitochondrial Encephalomyopathies
Expanding the phenotypic spectrum of Succinyl-CoA ligase deficiency through functional validation of a new SUCLG1 variant.
Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion.
Mitochondrial encephalomyopathy with elevated methylmalonic acid is caused by SUCLA2 mutations.
Movement Disorders
A Novel SUCLA2 Mutation Presenting as a Complex Childhood Movement Disorder.
SUCLA2 Arg407Trp mutation can cause a nonprogressive movement disorder - deafness syndrome.
Muscle Hypotonia
A Novel SUCLA2 Mutation Presenting as a Complex Childhood Movement Disorder.
Disorders caused by deficiency of succinate-CoA ligase.
Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children.
Mitochondrial DNA Depletion Syndromes: Review and Updates of Genetic Basis, Manifestations, and Therapeutic Options.
nadh:ubiquinone reductase (h+-translocating) deficiency
Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy.
Porphyrias, Hepatic
Physiological roles of animal succinate thiokinases. Specific association of the guanine nucleotide-linked enzyme with haem biosynthesis.
Prostatic Neoplasms
Pharmacologically targetable vulnerability in prostate cancer carrying RB1-SUCLA2 deletion.
Retinoblastoma
Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion.
succinate-coa ligase (adp-forming) deficiency
SUCLA2 Deficiency: A Deafness-Dystonia Syndrome with Distinctive Metabolic Findings (Report of a New Patient and Review of the Literature).
succinate-coa ligase (gdp-forming) deficiency
Novel mutation in SUCLA2 identified on sequencing analysis.
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.