Disease on EC 6.2.1.4 - succinate-CoA ligase (GDP-forming)

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DISEASE
TITLE OF PUBLICATION
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Acidosis
Disorders caused by deficiency of succinate-CoA ligase.
Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch.
Acidosis, Lactic
A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria.
Fatal infantile lactic acidosis and a novel homozygous mutation in the SUCLG1 gene: a mitochondrial DNA depletion disorder.
Neonatal lactic acidosis with methylmalonic aciduria by novel mutations in the SUCLG1 gene.
Adenoma
Identification of novel biomarker and therapeutic target candidates for diagnosis and treatment of follicular carcinoma.
Alzheimer Disease
SUCLG2 identified as both a determinator of CSF A?1-42 levels and an attenuator of cognitive decline in Alzheimer's disease.
Anemia, Sideroblastic
Interaction between succinyl CoA synthetase and the heme-biosynthetic enzyme ALAS-E is disrupted in sideroblastic anemia.
X-linked Sideroblastic Anemia Due to Carboxyl-terminal ALAS2 Mutations That Cause Loss of Binding to the ?-Subunit of Succinyl-CoA Synthetase (SUCLA2).
Carcinoma
Identification of novel biomarker and therapeutic target candidates for diagnosis and treatment of follicular carcinoma.
Cardiomyopathy, Hypertrophic
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.
Diabetes Mellitus, Experimental
Inhibition by streptozotocin of the activity of succinyl-CoA synthetase in vitro and in vivo.
Down Syndrome
Co-occurring Down syndrome and SUCLA2-related mitochondrial depletion syndrome.
Endometriosis
Changes in eutopic endometrial gene expression during the progression of experimental endometriosis in the baboon, papio anubis.
Epilepsy
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients.
Glioma
Elucidation of the genetic and epigenetic landscape alterations in RNA binding proteins in glioblastoma.
Heart Failure
Defining decreased protein succinylation of failing human cardiac myofibrils in ischemic cardiomyopathy.
Mitochondrial Diseases
A SUCLG1 mutation in a patient with mitochondrial DNA depletion and congenital anomalies.
New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria.
[Diagnosis of mitochondrial disorders in children with next generation sequencing].
Mitochondrial Encephalomyopathies
Clinical, Molecular, and Computational Analysis in two cases with mitochondrial encephalomyopathy associated with SUCLG1 mutation in a consanguineous family.
Expanding the phenotypic spectrum of Succinyl-CoA ligase deficiency through functional validation of a new SUCLG1 variant.
Muscle Hypotonia
Mitochondrial DNA Depletion Syndromes: Review and Updates of Genetic Basis, Manifestations, and Therapeutic Options.
Neoplasms
Proteomic Analysis of Hippocampus and Cortex in Streptozotocin-Induced Diabetic Model Mice Showing Dementia.
Obesity
Extracting time-dependent obese-diabetic specific networks in hepatic proteome analysis.
Porphyrias, Hepatic
Physiological roles of animal succinate thiokinases. Specific association of the guanine nucleotide-linked enzyme with haem biosynthesis.
pyruvate dehydrogenase (acetyl-transferring) deficiency
Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis.
Starvation
Deficiency of succinyl-CoA synthetase ? subunit delays development, impairs locomotor activity and reduces survival under starvation in Drosophila.
succinate-coa ligase (gdp-forming) deficiency
Expanding the phenotypic spectrum of Succinyl-CoA ligase deficiency through functional validation of a new SUCLG1 variant.
Five novel SUCLG1 mutations in three Chinese patients with succinate-CoA ligase deficiency noticed by mild methylmalonic aciduria.
Novel mutation in SUCLA2 identified on sequencing analysis.
Phenotypic variability in deficiency of the ? subunit of succinate-CoA ligase.
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.
The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein.
Two transgenic mouse models for beta subunit components of succinate-CoA ligase yielding pleiotropic metabolic alterations.
[Clinical and laboratory studies on four Chinese patients with succinate-CoA ligase deficiency noticed by mild methylmalonic aciduria].
Vitamin B 12 Deficiency
Diagnostic dilemma of patients with methylmalonic aciduria: Experience from a tertiary care centre in Pakistan.