Detalhe da pesquisa
1.
Single-molecule mitochondrial DNA sequencing shows no evidence of CpG methylation in human cells and tissues.
Nucleic Acids Res
; 49(22): 12757-12768, 2021 12 16.
Artigo
Inglês
| MEDLINE | ID: mdl-34850165
2.
Heteroplasmic mitochondrial DNA mutations in frontotemporal lobar degeneration.
Acta Neuropathol
; 143(6): 687-695, 2022 06.
Artigo
Inglês
| MEDLINE | ID: mdl-35488929
3.
Frequency and signature of somatic variants in 1461 human brain exomes.
Genet Med
; 21(4): 904-912, 2019 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30214067
4.
Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family.
Brain
; 141(1): 55-62, 2018 01 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29182774
5.
Extra-renal locations of the a4 subunit of H(+)ATPase.
BMC Cell Biol
; 17(1): 27, 2016 07 02.
Artigo
Inglês
| MEDLINE | ID: mdl-27368196
6.
Renal peroxiredoxin 6 interacts with anion exchanger 1 and plays a novel role in pH homeostasis.
Kidney Int
; 89(1): 105-112, 2016 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-26398495
7.
Physical and functional links between anion exchanger-1 and sodium pump.
J Am Soc Nephrol
; 26(2): 400-9, 2015 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-25012180
8.
Atp6v0a4 knockout mouse is a model of distal renal tubular acidosis with hearing loss, with additional extrarenal phenotype.
Proc Natl Acad Sci U S A
; 109(34): 13775-80, 2012 Aug 21.
Artigo
Inglês
| MEDLINE | ID: mdl-22872862
9.
High-Depth PRNP Sequencing in Brains With Sporadic Creutzfeldt-Jakob Disease.
Neurol Genet
; 9(1): e200054, 2023 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-36686280
10.
Mitochondrial DNA variants modulate N-formylmethionine, proteostasis and risk of late-onset human diseases.
Nat Med
; 27(9): 1564-1575, 2021 09.
Artigo
Inglês
| MEDLINE | ID: mdl-34426706
11.
Mice deficient in H+-ATPase a4 subunit have severe hearing impairment associated with enlarged endolymphatic compartments within the inner ear.
Dis Model Mech
; 6(2): 434-42, 2013 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-23065636
12.
Zebrafish based assays for the assessment of cardiac, visual and gut function--potential safety screens for early drug discovery.
J Pharmacol Toxicol Methods
; 58(1): 59-68, 2008.
Artigo
Inglês
| MEDLINE | ID: mdl-18585469
13.
GBR12909 possesses anticonvulsant activity in zebrafish and rodent models of generalized epilepsy but cardiac ion channel effects limit its clinical utility.
Pharmacology
; 79(4): 250-8, 2007.
Artigo
Inglês
| MEDLINE | ID: mdl-17476122