Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Lipoamide dehydrogenase deficiency due to a novel mutation in the interface domain.

Biochemical and biophysical research communications - 19 Aug 1999

Shany E, Saada A, Landau D, Shaag A, Hershkovitz E, Elpeleg O N

Abstract excerpt

An infant with a neurodegenerative disorder accompanied by lactic acidemia is described. In muscle homogenate, the activity of lipoamide dehydrogenase (LAD), the third catalytic subunit of pyruvate dehydrogenase complex (PDHc), alpha-ketoglutarate dehydrogenase complex (KGDHc), and branched-chain keto acid dehydrogenase complex was reduced to 15% of the control. The activity of PDHc was undetectable and the...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Dihydrolipoamide Dehydrogenase
Share to Dimerization

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Enzyme Precursors

Share to Mitochondria, Muscle

Share to Muscles

Share to Neurodegenerative Diseases

Share to Pyruvate Dehydrogenase Complex

Share to Pyruvate Dehydrogenase Complex Deficiency Disease

Source

Identifiers

PMID: 10448086
DOI: 10.1006/bbrc.1999.1133

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Lipoamide dehydrogenase deficiency due to a novel mutation in the interface domain.PMID 10448086Read ↗

Dihydrolipoamide dehydrogenase (DLD) deficiency in a Spanish patient with myopathic presentation due to a new mutation in the interface domain.Semantic proximity Read ↗

Novel mutations in a boy with dihydrolipoamide dehydrogenase deficiency.Semantic proximity Read ↗

Structural basis of the dysfunctioning of human 2-oxo acid dehydrogenase complexes.Semantic proximity Read ↗

Deficiency of pyruvate dehydrogenase caused by novel and known mutations in the E1alpha subunit.Semantic proximity Read ↗

Pyruvate Dehydrogenase Complex Deficiency due to a De Novo Heterozygous Mutation in Exon 7 of PDHA 1 Gene Presenting as Isolated Severe Lactic Acidosis in an Infant.Semantic proximity Read ↗

Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screeningSemantic proximity Read ↗

Cryptic proteolytic activity of dihydrolipoamide dehydrogenase.Semantic proximity Read ↗

A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency.Semantic proximity Read ↗

Identification of two mutations in a compound heterozygous child with dihydrolipoamide dehydrogenase deficiency.Semantic proximity Read ↗

Functional studies of 18 heterologously expressed medium-chain acyl-CoA dehydrogenase (MCAD) variants.Semantic proximity Read ↗

Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activity.Semantic proximity Read ↗

Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.