Sequence analysis of nuclear genes encoding functionally important complex I subunits in children with encephalomyopathy. (Q46687113)

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6 January 2020

title

Sequence analysis of nuclear genes encoding functionally important complex I subunits in children with encephalomyopathy (English)

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6 January 2020

1

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6 January 2020

author name string

Johanna Uusimaa

2

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6 January 2020

Anne M Remes

3

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6 January 2020

Heikki Rantala

4

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6 January 2020

Ilmo E Hassinen

5

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6 January 2020

Kari Majamaa

6

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publication date

3 September 2005

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Journal of Molecular Medicine

6 January 2020

published in

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volume

83

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issue

10

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6 January 2020

page(s)

786-794

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NN'-dicyclohexylcarbodi-imide-sensitivity of bovine heart mitochondrial NADH: ubiquinone oxidoreductase. Inhibition of activity and binding to subunits

6 January 2020

cites work

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cDNA sequence and chromosomal localization of the NDUFS8 human gene coding for the 23 kDa subunit of the mitochondrial complex I.

21 January 2018

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Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations

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Structure of the respiratory NADH:ubiquinone oxidoreductase (complex I)

21 January 2018

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12 December 2020

Isolated complex I deficiency in children: clinical, biochemical and genetic aspects

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Human mitochondrial complex I in health and disease

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A microspectrophotometric method for the determination of cytochrome oxidase

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Small in-frame deletions and missense mutations in CADASIL: 3D models predict misfolding of Notch3 EGF-like repeat domains

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The Tom and Tim machine

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Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy

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12 December 2020

Demonstration of a New Pathogenic Mutation in Human Complex I Deficiency: A 5-bp Duplication in the Nuclear Gene Encoding the 18-kD (AQDQ) Subunit

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Mitochondrial targeting of human 8-oxoguanine DNA glycosylase hOGG1 is impaired by a somatic mutation found in kidney cancer.

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Computational method to predict mitochondrially imported proteins and their targeting sequences

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Domain structure of mitochondrial and chloroplast targeting peptides

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Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy

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Childhood encephalopathies and myopathies: a prospective study in a defined population to assess the frequency of mitochondrial disorders

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A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome

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Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I.

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Molecular epidemiology of childhood mitochondrial encephalomyopathies in a Finnish population: sequence analysis of entire mtDNA of 17 children reveals heteroplasmic mutations in tRNAArg, tRNAGlu, and tRNALeu(UUR) genes

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Consistent structure between bacterial and mitochondrial NADH:ubiquinone oxidoreductase (complex I)

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A microtiter plate assay for cytochrome c oxidase in permeabilized whole cells

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Biochemical examination of fibroblasts in the diagnosis and research of oxidative phosphorylation (OXPHOS) defects

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Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome

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Nuclear genes of human complex I of the mitochondrial electron transport chain: state of the art

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Locked nucleic acid (LNA): fine-tuning the recognition of DNA and RNA.

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The Ala16Val genetic dimorphism modulates the import of human manganese superoxide dismutase into rat liver mitochondria

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Assaying mitochondrial respiratory complex activity in mitochondria isolated from human cells and tissues.

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12 December 2020

Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency

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12 December 2020

Biochemical and molecular investigations in respiratory chain deficiencies

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12 December 2020

WinGene/WinPep: user-friendly software for the analysis of amino acid sequences

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12 December 2020

Blue Native electrophoresis to study mitochondrial and other protein complexes

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12 December 2020

The first nuclear-encoded complex I mutation in a patient with Leigh syndrome

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12 December 2020

Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy

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12 December 2020

Human mitochondrial complex I dysfunction

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12 December 2020

Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene

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12 December 2020

An electron-transport system associated with the outer membrane of liver mitochondria. A biochemical and morphological study

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12 December 2020

Mitochondrial presequences

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12 December 2020

10.1007/S00109-005-0712-Y

Identifiers

DOI

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6 January 2020

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