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Article

The X-chromosomal NDUFA1 gene of complex I in mitochondrial encephalomyopathies: tissue expression and mutation detection.

Journal of inherited metabolic disease - 1 Jun 1998

Loeffen J, Smeets R, Smeitink J, Ruitenbeek W, Janssen A, Mariman E, Sengers R, Trijbels F, van den Heuvel L

Abstract excerpt

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Topics

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Share to DNA, Complementary
Share to Electron Transport Complex I
Share to Mitochondrial Encephalomyopathies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to NAD(P)H Dehydrogenase (Quinone)

Share to NADH, NADPH Oxidoreductases

Share to RNA, Messenger

Share to Tissue Distribution

Share to X Chromosome

Source

Identifiers

PMID: 9686359
DOI: 10.1023/a:1005339332062

Genes

NDUFA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

The X-chromosomal NDUFA1 gene of complex I in mitochondrial encephalomyopathies: tissue expression and mutation detection.PMID 9686359Read ↗

NDUFA4 Mutations Underlie Dysfunction of a Cytochrome c Oxidase Subunit Linked to Human Neurological DiseaseSemantic proximity Read ↗

A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency.Semantic proximity Read ↗

Mitochondrial complex I deficiency of nuclear origin I. Structural genes.Semantic proximity Read ↗

[Complex I deficiency due to NDUFS8 gene mutation].Semantic proximity Read ↗

Mitochondrial dysfunction in Stüve-Wiedemann syndrome in a patient carrying an ND1 gene mutation.Semantic proximity Read ↗

Whole-exome sequencing identifies a variant of the mitochondrial MT-ND1 gene associated with epileptic encephalopathy: west syndrome evolving to Lennox-Gastaut syndrome.Semantic proximity Read ↗

When the Expected Scenario Did Not Occur: A Novel NDUFA12 Mutation Resembling Neuromyelitis Optica Spectrum Disorder.Semantic proximity Read ↗

Lack of mitochondrial complex I assembly factor NDUFAF2 results in a distinctive infantile-onset brainstem neurodegenerative disease with early lethality.Semantic proximity Read ↗

A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease.Semantic proximity Read ↗

<i>De novo</i> truncation variants in the low-complexity C-terminal region of <i>XRN1</i> are associated with a dominant form of lethal infantile mitochondrial cardiomyopathySemantic proximity Read ↗

Lack of mitochondrial complex I assembly factor NDUFAF2 results in a distinctive infantile-onset brainstem neurodegenerative disease with early lethalitySemantic proximity Read ↗

Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy.Semantic proximity Read ↗

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