Detalhe da pesquisa
1.
Genetic and functional correction of argininosuccinate lyase deficiency using CRISPR adenine base editors.
Am J Hum Genet
; 111(4): 714-728, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38579669
2.
Instability of the mitochondrial alanyl-tRNA synthetase underlies fatal infantile-onset cardiomyopathy.
Hum Mol Genet
; 28(2): 258-268, 2019 01 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-30285085
3.
Editing activity for eliminating mischarged tRNAs is essential in mammalian mitochondria.
Nucleic Acids Res
; 46(2): 849-860, 2018 01 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-29228266
4.
Defective mitochondrial RNA processing due to PNPT1 variants causes Leigh syndrome.
Hum Mol Genet
; 26(17): 3352-3361, 2017 09 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28645153
5.
ATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia.
Hum Mol Genet
; 26(8): 1432-1443, 2017 04 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28158749
6.
Atomistic Molecular Dynamics Simulations of Mitochondrial DNA Polymerase γ: Novel Mechanisms of Function and Pathogenesis.
Biochemistry
; 56(9): 1227-1238, 2017 03 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28206745
7.
SDHA mutation with dominant transmission results in complex II deficiency with ocular, cardiac, and neurologic involvement.
Am J Med Genet A
; 173(1): 225-230, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27683074
8.
The rare Costello variant HRAS c.173C>T (p.T58I) with severe neonatal hypertrophic cardiomyopathy.
Am J Med Genet A
; 170(6): 1433-8, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26888048
9.
Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy.
Hum Mol Genet
; 21(20): 4521-9, 2012 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22833457
10.
Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy.
Am J Hum Genet
; 88(5): 635-42, 2011 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-21549344
11.
Whole-exome sequencing identifies a mutation in the mitochondrial ribosome protein MRPL44 to underlie mitochondrial infantile cardiomyopathy.
J Med Genet
; 50(3): 151-9, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23315540
12.
Clustering of Alpers disease mutations and catalytic defects in biochemical variants reveal new features of molecular mechanism of the human mitochondrial replicase, Pol γ.
Nucleic Acids Res
; 39(21): 9072-84, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21824913
13.
Carrier frequency of a common mutation of carnitine palmitoyltransferase 1A deficiency and long-term follow-up in Finland.
J Pediatr
; 160(3): 473-479.e1, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21962599
14.
Functional analysis of H. sapiens DNA polymerase gamma spacer mutation W748S with and without common variant E1143G.
Biochim Biophys Acta
; 1802(6): 545-51, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20153822
15.
Real-time electron transfer in respiratory complex I.
Proc Natl Acad Sci U S A
; 105(10): 3763-7, 2008 Mar 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-18316732
16.
High affinity cation-binding sites in Complex I from Escherichia coli.
Biochim Biophys Acta
; 1787(8): 1024-8, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19261245
17.
The role of the invariant glutamate 95 in the catalytic site of Complex I from Escherichia coli.
Biochim Biophys Acta
; 1787(1): 68-73, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19061856
18.
SUCLA2 mutations cause global protein succinylation contributing to the pathomechanism of a hereditary mitochondrial disease.
Nat Commun
; 11(1): 5927, 2020 11 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-33230181
19.
Conserved lysine residues of the membrane subunit NuoM are involved in energy conversion by the proton-pumping NADH:ubiquinone oxidoreductase (Complex I).
Biochim Biophys Acta
; 1777(9): 1166-72, 2008 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-18590697
20.
Fibroblast Growth Factor 21 Drives Dynamics of Local and Systemic Stress Responses in Mitochondrial Myopathy with mtDNA Deletions.
Cell Metab
; 30(6): 1040-1054.e7, 2019 12 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31523008