(Q34594206)

3 August 2017

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title

Mutations in human nuclear genes encoding for subunits of mitochondrial respiratory complex I: the NDUFS4 gene (English)

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3 August 2017

Sergio Papa

2

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author name string

Vittoria Petruzzella

series ordinal

1

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3 August 2017

language of work or name

English

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publication date

1 March 2002

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3 August 2017

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3 August 2017

volume

286

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3 August 2017

issue

1

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3 August 2017

page(s)

149-154

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The PROSITE database, its status in 1997.

3 August 2017

cites work

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

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

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Molecular cloning and characterization of the human mitochondrial NADH:oxidoreductase 10-kDa gene (NDUFV3)

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Role of NADH shuttle system in glucose-induced activation of mitochondrial metabolism and insulin secretion

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Purification and molecular and enzymic properties of mitochondrial NADH dehydrogenase

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Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder

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Involvement of two novel chaperones in the assembly of mitochondrial NADH:Ubiquinone oxidoreductase (complex I).

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Subacute necrotizing encephalomyelopathy in an infant

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

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

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

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Up-regulation of nuclear and mitochondrial genes in the skeletal muscle of mice lacking the heart/muscle isoform of the adenine nucleotide translocator

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cAMP-dependent protein kinase and phosphoproteins in mammalian mitochondria. An extension of the cAMP-mediated intracellular signal transduction

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Mutation in the NDUFS4 gene of complex I abolishes cAMP-dependent activation of the complex in a child with fatal neurological syndrome

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Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chain

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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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7 January 2021

cAMP-dependent phosphorylation of the nuclear encoded 18-kDa (IP) subunit of respiratory complex I and activation of the complex in serum-starved mouse fibroblast cultures

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7 January 2021

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

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7 January 2021

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7 January 2021

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7 January 2021

Complex I from the fungus Neurospora crassa

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7 January 2021

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7 January 2021

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7 January 2021

Sequence variations in the NDUFA1 gene encoding a subunit of complex I of the respiratory chain

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7 January 2021

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7 January 2021

10.1016/S0378-1119(01)00810-1

Identifiers

DOI

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3 August 2017

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