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Nuclear genes in mitochondrial disorders.
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1 reference
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Europe PubMed Central
PubMed publication ID
12787788
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12787788%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
review article
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Europe PubMed Central
title
Nuclear genes in mitochondrial disorders
(English)
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stated in
Europe PubMed Central
PubMed publication ID
12787788
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12787788%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
author
Antonella Spinazzola
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2
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Europe PubMed Central
PubMed publication ID
12787788
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12787788%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
Valerio Carelli
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3
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Europe PubMed Central
PubMed publication ID
12787788
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12787788%20AND%20SRC:MED&resulttype=core&format=json
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4 November 2019
Massimo Zeviani
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Massimo Zeviani
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Europe PubMed Central
PubMed publication ID
12787788
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12787788%20AND%20SRC:MED&resulttype=core&format=json
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4 November 2019
publication date
1 June 2003
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Europe PubMed Central
PubMed publication ID
12787788
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12787788%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
published in
Current Opinion in Genetics & Development
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12787788
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12787788%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
volume
13
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12787788
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12787788%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
issue
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12787788
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12787788%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
page(s)
262-270
1 reference
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Europe PubMed Central
PubMed publication ID
12787788
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12787788%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
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Crossref
reference URL
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7 January 2021
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Biased incorporation of ribonucleotides on the mitochondrial L-strand accounts for apparent strand-asymmetric DNA replication.
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7 January 2021
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7 January 2021
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Human mitochondrial transcription factor B1 methylates ribosomal RNA at a conserved stem-loop
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7 January 2021
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7 January 2021
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7 January 2021
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Mutations in human nuclear genes encoding for subunits of mitochondrial respiratory complex I: the NDUFS4 gene
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7 January 2021
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CIA30 complex I assembly factor: a candidate for human complex I deficiency?
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7 January 2021
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Inborn errors of complex II--unusual human mitochondrial diseases
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7 January 2021
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Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas
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7 January 2021
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Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma.
1 reference
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7 January 2021
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Germ-line mutations in nonsyndromic pheochromocytoma
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7 January 2021
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Functional consequences of a SDHB gene mutation in an apparently sporadic pheochromocytoma
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7 January 2021
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Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer
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7 January 2021
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Mitochondrial encephalomyopathy with coenzyme Q10 deficiency
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Familial cerebellar ataxia with muscle coenzyme Q10 deficiency
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https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900052-2
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7 January 2021
based on heuristic
inferred from DOI database lookup
Coenzyme Q-responsive Leigh's encephalopathy in two sisters
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reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900052-2
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7 January 2021
based on heuristic
inferred from DOI database lookup
Cytochrome c oxidase deficiency
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Crossref
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https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900052-2
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7 January 2021
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Shy1p is necessary for full expression of mitochondrial COX1 in the yeast model of Leigh's syndrome
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https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900052-2
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7 January 2021
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inferred from DOI database lookup
Shy1p occurs in a high molecular weight complex and is required for efficient assembly of cytochrome c oxidase in yeast
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Crossref
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7 January 2021
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Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions.
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7 January 2021
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Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice
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7 January 2021
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Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease
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7 January 2021
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Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts
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7 January 2021
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Copper supplementation restores cytochrome c oxidase activity in cultured cells from patients with SCO2 mutations
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Crossref
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7 January 2021
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Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy
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7 January 2021
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A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.
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Crossref
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7 January 2021
based on heuristic
inferred from DOI database lookup
GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900052-2
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7 January 2021
based on heuristic
inferred from DOI database lookup
Defects of intergenomic communication: autosomal disorders that cause multiple deletions and depletion of mitochondrial DNA.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900052-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900052-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900052-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Active site mutation in DNA polymerase gamma associated with progressive external ophthalmoplegia causes error-prone DNA synthesis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900052-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial DNA depletion: mutations in thymidine kinase gene with myopathy and SMA.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900052-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mitochondrial DNA depletion and dGK gene mutations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900052-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Kinetic properties of mutant human thymidine kinase 2 suggest a mechanism for mitochondrial DNA depletion myopathy
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900052-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Altered thymidine metabolism due to defects of thymidine phosphorylase
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900052-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Targeted deletion of both thymidine phosphorylase and uridine phosphorylase and consequent disorders in mice
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900052-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutant deoxynucleotide carrier is associated with congenital microcephaly
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900052-2
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7 January 2021
based on heuristic
inferred from DOI database lookup
Amish lethal microcephaly: a new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900052-2
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7 January 2021
based on heuristic
inferred from DOI database lookup
Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/TIMM8a-TIMM13 complex
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900052-2
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7 January 2021
based on heuristic
inferred from DOI database lookup
The human dynamin-related protein OPA1 is anchored to the mitochondrial inner membrane facing the inter-membrane space
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900052-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
OPA1 (Kjer type) dominant optic atrophy: a novel mitochondrial disease.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900052-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900052-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Is normal tension glaucoma actually an unrecognized hereditary optic neuropathy? New evidence from genetic analysis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900052-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Loss of OPA1 perturbates the mitochondrial inner membrane structure and integrity, leading to cytochrome c release and apoptosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900052-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Leber's hereditary optic neuropathy (LHON) pathogenic mutations induce mitochondrial-dependent apoptotic death in transmitochondrial cells incubated with galactose medium
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900052-2
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7 January 2021
based on heuristic
inferred from DOI database lookup
Deficiency of tetralinoleoyl-cardiolipin in Barth syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900052-2
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7 January 2021
based on heuristic
inferred from DOI database lookup
Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900052-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cell complementation using Genebridge 4 human:rodent hybrids for physical mapping of novel mitochondrial respiratory chain deficiency genes.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900052-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Systematic screen for human disease genes in yeast
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900052-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0959-437X%2803%2900052-2
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1016/S0959-437X(03)00052-2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12787788
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12787788%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
PubMed publication ID
12787788
1 reference
stated in
Europe PubMed Central
PubMed publication ID
12787788
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12787788%20AND%20SRC:MED&resulttype=core&format=json
retrieved
4 November 2019
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