Respiratory complex I in brain development and genetic disease (Q24319013)

NADH dehydrogenase (ubiquinone) activity

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

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Vittoria Petruzzella

2

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Patrizia Corsi

Patrizia Corsi

7

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Salvatore Scacco

Salvatore Scacco

3

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Sergio Papa

Sergio Papa

1

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Enrico Bertini

Enrico Bertini

10

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Filippo Maria Santorelli

Filippo Maria Santorelli

11

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ORCID Public Data File 2021

Damiano Panelli

5

Damiano Panelli

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author name string

Rosaria Vergari

4

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Rosanna Tamborra

6

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Margherita Picciariello

8

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Rossana Lambo

Isolation and culture of adult rat hippocampal neurons

9

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language of work or name

English

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publication date

March 2004

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published in

Neurochemical Research

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volume

29

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issue

3

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page(s)

547-60

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cites work

1 reference

12 December 2020

Structure and function of the synapsins

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12 December 2020

The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS

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12 December 2020

Sequence and organization of the human mitochondrial genome

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12 December 2020

The subunit composition of the human NADH dehydrogenase obtained by rapid one-step immunopurification

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12 December 2020

Oxidative stress, antioxidant defences and aging.

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12 December 2020

The nuclear-encoded 18 kDa (IP) AQDQ subunit of bovine heart complex I is phosphorylated by the mitochondrial cAMP-dependent protein kinase

1 reference

12 December 2020

The protective role of mild acidic pH shifts on synaptic NMDA current in hippocampal slices

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12 December 2020

Atypical Leigh syndrome associated with the D393N mutation in the mitochondrial ND5 subunit.

1 reference

12 December 2020

Synapsin I and Synaptophysin expression during ontogenesis of the mouse peripheral vestibular system

1 reference

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

1 reference

12 December 2020

Cloning and tissue expressional characterization of a full-length cDNA encoding human neuronal protein P17.3.

1 reference

12 December 2020

Import of carrier proteins into the mitochondrial inner membrane mediated by Tim22.

1 reference

12 December 2020

Recombinant aequorin and green fluorescent protein as valuable tools in the study of cell signalling

1 reference

12 December 2020

Decline with age of the respiratory chain activity in human skeletal muscle.

1 reference

12 December 2020

Leigh disease associated with a novel mitochondrial DNA ND5 mutation

1 reference

12 December 2020

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

1 reference

12 December 2020

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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12 December 2020

Postnatal development of the complexes of the electron transport chain in synaptic mitochondria from rat brain

1 reference

12 December 2020

The proton-translocating NADH-quinone oxidoreductase in the respiratory chain: the secret unlocked

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12 December 2020

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

1 reference

12 December 2020

Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I

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12 December 2020

Ceramide Interaction with the Respiratory Chain of Heart Mitochondria†

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12 December 2020

URF6, last unidentified reading frame of human mtDNA, codes for an NADH dehydrogenase subunit

1 reference

12 December 2020

Analysis of the subunit composition of complex I from bovine heart mitochondria

1 reference

12 December 2020

Serine (threonine) phosphatase(s) acting on cAMP-dependent phosphoproteins in mammalian mitochondria.

1 reference

12 December 2020

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

1 reference

12 December 2020

Identification of GRIM-19, a novel cell death-regulatory gene induced by the interferon-beta and retinoic acid combination, using a genetic approach

1 reference

12 December 2020

Human complex I deficiency: clinical spectrum and involvement of oxygen free radicals in the pathogenicity of the defect

1 reference

12 December 2020

The NADH: ubiquinone oxidoreductase (complex I) of the mammalian respiratory chain and the cAMP cascade

1 reference

12 December 2020

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

1 reference

12 December 2020

Definition of the nuclear encoded protein composition of bovine heart mitochondrial complex I. Identification of two new subunits.

1 reference

12 December 2020

Purification and properties of pyruvate dehydrogenase phosphatase from bovine heart and kidney

1 reference

12 December 2020

Pathological mutations of the human NDUFS4 gene of the 18-kDa (AQDQ) subunit of complex I affect the expression of the protein and the assembly and function of the complex

1 reference

12 December 2020

The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency.

1 reference

12 December 2020

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

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12 December 2020

Postnatal development of the complexes of the electron transport chain in isolated rat brain mitochondria

1 reference

12 December 2020

A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia

1 reference

12 December 2020

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

1 reference

12 December 2020

The genetics and pathology of oxidative phosphorylation

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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

Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA

1 reference

12 December 2020

The NADH:ubiquinone oxidoreductase (complex I) of respiratory chains

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12 December 2020

Identification of amino acid residues associated with the [2Fe-2S] cluster of the 25 kDa (NQO2) subunit of the proton-translocating NADH-quinone oxidoreductase of Paracoccus denitrificans

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12 December 2020

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

1 reference

12 December 2020

Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS.

1 reference

12 December 2020

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

1 reference

12 December 2020

The NDUFS4 nuclear gene of complex I of mitochondria and the cAMP cascade

1 reference

12 December 2020

GRIM-19, a cell death regulatory gene product, is a subunit of bovine mitochondrial NADH:ubiquinone oxidoreductase (complex I)

1 reference

12 December 2020

Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families

1 reference

12 December 2020