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1:
Depletion of mtDNA: syndromes and genes.
Mitochondrion.
2007 Feb-Apr;7(1-2):6-12.
Epub 2006 Dec 5. Review.
PMID: 17280874 [PubMed - indexed for MEDLINE]
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2:
Infantile encephalopathy and defective mitochondrial DNA translation
in patients with mutations of mitochondrial elongation factors EFG1
and EFTu.
Am J Hum Genet. 2007 Jan;80(1):44-58.
Epub 2006 Nov 15. Erratum in: Am J Hum Genet. 2007 Mar;80(3):580.
PMID: 17160893 [PubMed - indexed for MEDLINE]
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3:
Chip-based mtDNA mutation screening enables fast and reliable genetic
diagnosis of OXPHOS patients.
Genet Med. 2006 Oct;8(10):620-7.
PMID: 17079878 [PubMed - indexed for MEDLINE]
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4:
Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers
affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA).
J Med
Genet. 2007 Mar;44(3):173-80.
Epub 2006 Oct 20.
PMID: 17056637 [PubMed - indexed for MEDLINE]
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5:
A case of ethylmalonic encephalopathy with atypical clinical and
biochemical presentation.
Mol Genet Metab. 2006 Dec;89(4):395-7.
Epub 2006 Jul 7.
PMID: 16828325 [PubMed - indexed for MEDLINE]
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6:
MPV17 encodes an inner mitochondrial membrane protein and is mutated
in infantile hepatic mitochondrial DNA depletion.
Nat Genet.
2006 May;38(5):570-5.
Epub 2006 Apr 2.
PMID: 16582910 [PubMed - indexed for MEDLINE]
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7:
ETHE1 mutations are specific to ethylmalonic encephalopathy.
J Med
Genet. 2006 Apr;43(4):340-6.
Epub 2005 Sep 23.
PMID: 16183799 [PubMed - indexed for MEDLINE]
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8:
Pitfalls in restriction fragment length polymorphism analysis of
Leber's hereditary optic neuropathy patients.
Mitochondrion.
2004 Jun;4(1):37-9.
No abstract available.
PMID: 16120372 [PubMed]
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9:
Inherited Mendelian defects of nuclear-mitochondrial communication
affecting the stability of mitochondrial DNA.
Mitochondrion.
2002 Nov;2(1-2):39-46.
PMID: 16120307 [PubMed]
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10:
Oxygen sensing requires mitochondrial ROS but not oxidative
phosphorylation.
Cell Metab.
2005 Jun;1(6):409-14.
PMID: 16054090 [PubMed - indexed for MEDLINE]
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11:
Novel mutations in COX15 in a long surviving Leigh syndrome patient
with cytochrome c oxidase deficiency.
J Med
Genet. 2005 May;42(5):e28.
PMID: 15863660 [PubMed - indexed for MEDLINE]
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12:
Mutations in AAC2, equivalent to human adPEO-associated ANT1 mutations,
lead to defective oxidative phosphorylation in Saccharomyces
cerevisiae and affect mitochondrial DNA stability.
Hum Mol
Genet. 2004 May 1;13(9):923-34.
Epub 2004 Mar 11.
PMID: 15016764 [PubMed - indexed for MEDLINE]
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13:
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene
encoding a mitochondrial matrix protein.
Am J Hum Genet. 2004 Feb;74(2):239-52.
Epub 2004 Jan 19.
PMID: 14732903 [PubMed - indexed for MEDLINE]
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14:
Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external
ophthalmoplegia (PEO).
Neurology. 2003 Apr
22;60(8):1354-6.
PMID: 12707443 [PubMed - indexed for MEDLINE]
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15:
Constitutive knockout of Surf1 is associated with high embryonic
lethality, mitochondrial disease and cytochrome c oxidase deficiency
in mice.
Hum Mol
Genet. 2003 Feb 15;12(4):399-413.
PMID: 12566387 [PubMed - indexed for MEDLINE]
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16:
The V368i mutation in Twinkle does not segregate with AdPEO.
Ann Neurol.
2003 Feb;53(2):278.
No abstract available.
PMID: 12557300 [PubMed - indexed for MEDLINE]
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17:
Unusual association of sporadic olivopontocerebellar atrophy and motor
neuron disease.
Neurol Sci. 2002 Dec;23(5):243-5.
PMID: 12522682 [PubMed - indexed for MEDLINE]
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18:
Mutations of mitochondrial DNA polymerase gammaA are a frequent cause
of autosomal dominant or recessive progressive external
ophthalmoplegia.
Ann Neurol.
2002 Aug;52(2):211-9.
PMID: 12210792 [PubMed - indexed for MEDLINE]
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19:
A novel missense adenine nucleotide translocator-1 gene mutation in a
Greek adPEO family.
Neurology. 2001 Dec
26;57(12):2295-8.
PMID: 11756613 [PubMed - indexed for MEDLINE]
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20:
A novel nonsense mutation (Q352X) in the mitochondrial cytochrome b
gene associated with a combined deficiency of complexes I and III.
Neuromuscul Disord. 2002 Jan;12(1):49-52.
PMID: 11731284 [PubMed - indexed for MEDLINE]
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21:
Human mitochondrial DNA deletions associated with mutations in the
gene encoding Twinkle, a phage T7 gene 4-like protein localized in
mitochondria.
Nat Genet.
2001 Jul;28(3):223-31.
Erratum in: Nat Genet 2001 Sep;29(1):100.
PMID: 11431692 [PubMed - indexed for MEDLINE]
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22:
Multiple origins of the mtDNA 7472insC mutation associated with
hearing loss and neurological dysfunction.
Eur J Hum Genet. 2001 May;9(5):385-7.
PMID: 11378827 [PubMed - indexed for MEDLINE]
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23:
Mutations in the SURF1 gene associated with Leigh syndrome and
cytochrome C oxidase deficiency.
Hum Mutat.
2001 May;17(5):374-81.
PMID: 11317352 [PubMed - indexed for MEDLINE]
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24:
A novel mtDNA mutation in the ND5 subunit of complex I in two MELAS
patients.
Ann Neurol.
2001 Jan;49(1):106-10.
PMID: 11198278 [PubMed - indexed for MEDLINE]
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25:
A novel frameshift mutation of the mtDNA COIII gene leads to impaired
assembly of cytochrome c oxidase in a patient affected by Leigh-like
syndrome.
Hum Mol
Genet. 2000 Nov 1;9(18):2733-42.
PMID: 11063732 [PubMed - indexed for MEDLINE]
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26:
Nuclear gene defects in mitochondrial disorders.
Ital J Neurol Sci. 1999 Dec;20(6):401-8.
Review.
PMID: 10937860 [PubMed - indexed for MEDLINE]
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27:
Role of adenine nucleotide translocator 1 in mtDNA maintenance.
Science.
2000 Aug 4;289(5480):782-5.
PMID: 10926541 [PubMed - indexed for MEDLINE]
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28:
Decreased aminoacylation of mutant tRNAs in MELAS but not in MERRF
patients.
Hum Mol
Genet. 2000 Mar 1;9(4):467-75.
PMID: 10699170 [PubMed - indexed for MEDLINE]
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29:
Leigh syndrome transmitted by uniparental disomy of chromosome 9.
J Med
Genet. 1999 Dec;36(12):927-8.
No abstract available.
PMID: 10636738 [PubMed - indexed for MEDLINE]
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30:
Characterization of SURF-1 expression and Surf-1p function in normal
and disease conditions.
Hum Mol
Genet. 1999 Dec;8(13):2533-40.
PMID: 10556302 [PubMed - indexed for MEDLINE]
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31:
Molecular phenotype of the np 7472 deafness-associated mitochondrial
mutation in osteosarcoma cell cybrids.
Hum Mol
Genet. 1999 Nov;8(12):2275-83.
PMID: 10545608 [PubMed - indexed for MEDLINE]
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32:
Loss-of-function mutations of SURF-1 are specifically associated with
Leigh syndrome with cytochrome c oxidase deficiency.
Ann Neurol.
1999 Aug;46(2):161-6.
PMID: 10443880 [PubMed - indexed for MEDLINE]
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33:
A novel mutation (8342G-->A) in the mitochondrial tRNA(Lys) gene
associated with progressive external ophthalmoplegia and myoclonus.
Neuromuscul Disord. 1999 Mar;9(2):66-71.
PMID: 10220860 [PubMed - indexed for MEDLINE]
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34:
Analysis of the trinucleotide CAG repeat from the human mitochondrial
DNA polymerase gene in healthy and diseased individuals.
Eur J Hum Genet. 1999 Feb-Mar;7(2):140-6.
PMID: 10196696 [PubMed - indexed for MEDLINE]
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35:
Hearing impairment and neurological dysfunction associated with a
mutation in the mitochondrial tRNASer(UCN) gene.
Eur J Hum Genet. 1999 Jan;7(1):45-51.
PMID: 10094190 [PubMed - indexed for MEDLINE]
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36:
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.
Genomics. 1998 Dec
15;54(3):494-504.
PMID: 9878253 [PubMed - indexed for MEDLINE]
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37:
Mutations of SURF-1 in Leigh disease associated with cytochrome c
oxidase deficiency.
Am J Hum Genet. 1998 Dec;63(6):1609-21.
PMID: 9837813 [PubMed - indexed for MEDLINE]
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38:
Mitochondrial disorders.
Medicine (Baltimore).
1998 Jan;77(1):59-72.
Review.
PMID: 9465864 [PubMed - indexed for MEDLINE]
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39:
A novel mutation in the mitochondrial tRNA(Val) gene associated with a
complex neurological presentation.
Ann Neurol.
1998 Jan;43(1):98-101.
PMID: 9450773 [PubMed - indexed for MEDLINE]
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40:
Characterization and expression of the mouse endonuclease G gene.
DNA Cell Biol.
1997 Sep;16(9):1111-22.
PMID: 9324313 [PubMed - indexed for MEDLINE]
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41:
Disorders of mitochondria and related metabolism.
Curr
Opin Neurol. 1997 Apr;10(2):160-7.
Review.
PMID: 9146998 [PubMed - indexed for MEDLINE]
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42:
Identification of the gene encoding the human mitochondrial RNA
polymerase (h-mtRPOL) by cyberscreening of the Expressed Sequence Tags
database.
Hum Mol
Genet. 1997 Apr;6(4):615-25.
PMID: 9097968 [PubMed - indexed for MEDLINE]
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43:
A single cell complementation class is common to several cases of
cytochrome c oxidase-defective Leigh's syndrome.
Hum Mol
Genet. 1997 Feb;6(2):221-8.
PMID: 9063742 [PubMed - indexed for MEDLINE]
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44:
Nuclear DNA origin of cytochrome c oxidase deficiency in Leigh's
syndrome: genetic evidence based on patient's-derived rho degrees
transformants.
Hum Mol
Genet. 1995 Nov;4(11):2017-23.
PMID: 8589677 [PubMed - indexed for MEDLINE]
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45:
Early-onset encephalomyopathy associated with tissue-specific
mitochondrial DNA depletion: a morphological, biochemical and
molecular-genetic study.
J Neurol.
1995 Sep;242(9):547-56.
PMID: 8551315 [PubMed - indexed for MEDLINE]
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46:
Sequence analysis of mitochondrial DNA in a new maternally inherited
encephalomyopathy.
J Neurol.
1995 Aug;242(8):490-6.
PMID: 8530975 [PubMed - indexed for MEDLINE]
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47:
Maternally inherited hearing loss, ataxia and myoclonus associated
with a novel point mutation in mitochondrial tRNASer(UCN) gene.
Hum Mol
Genet. 1995 Aug;4(8):1421-7.
PMID: 7581383 [PubMed - indexed for MEDLINE]
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48:
The gene (NFE2L1) for human NRF-1, an activator involved in
nuclear-mitochondrial interactions, maps to 7q32.
Genomics. 1995 Jun
10;27(3):555-7.
No abstract available.
PMID: 7558044 [PubMed - indexed for MEDLINE]
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49:
Searching for genes affecting the structural integrity of the
mitochondrial genome.
Biochim Biophys Acta. 1995 May 24;1271(1):153-8.
Review.
PMID: 7599202 [PubMed - indexed for MEDLINE]
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50:
Chromosomal localization of mitochondrial transcription factor A
(TCF6), single-stranded DNA-binding protein (SSBP), and endonuclease G
(ENDOG), three human housekeeping genes involved in mitochondrial
biogenesis.
Genomics. 1995 Jan
20;25(2):559-64.
PMID: 7789991 [PubMed - indexed for MEDLINE]
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51:
Single-stranded-DNA-binding proteins from human mitochondria and
Escherichia coli have analogous physicochemical properties.
Eur J Biochem. 1994 Apr 1;221(1):435-43.
PMID: 8168532 [PubMed - indexed for MEDLINE]
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52:
Defective respiratory capacity and mitochondrial protein synthesis in
transformant cybrids harboring the tRNA(Leu(UUR)) mutation associated
with maternally inherited myopathy and cardiomyopathy.
J Clin Invest. 1994 Mar;93(3):1102-7.
PMID: 8132749 [PubMed - indexed for MEDLINE]
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53:
Cloning of human and rat cDNAs encoding the mitochondrial
single-stranded DNA-binding protein (SSB).
Gene. 1993 Apr 30;126(2):219-25.
PMID: 8482537 [PubMed - indexed for MEDLINE]
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54:
A MERRF/MELAS overlap syndrome associated with a new point mutation in
the mitochondrial DNA tRNA(Lys) gene.
Eur J Hum Genet. 1993;1(1):80-7.
Erratum in: Eur J Hum Genet 1993;1(2):124.
PMID: 8069654 [PubMed - indexed for MEDLINE]
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55:
A full-length cDNA encoding a mitochondrial DNA-specific
single-stranded DNA binding protein from Xenopus laevis.
Nucleic Acids
Res. 1991 Aug 11;19(15):4291.
No abstract available.
PMID: 1870981 [PubMed - indexed for MEDLINE]
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56:
Maternally inherited myopathy and cardiomyopathy: association with
mutation in mitochondrial DNA tRNA(Leu)(UUR).
Lancet. 1991 Jul 20;338(8760):143-7.
PMID: 1677065 [PubMed - indexed for MEDLINE]
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