Detalhe da pesquisa
1.
The leucine zipper domain of the transcriptional repressor Opi1 underlies a signal transduction mechanism regulating lipid synthesis.
J Biol Chem
; 299(12): 105417, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37918807
2.
A mouse model of inherited choline kinase ß-deficiency presents with specific cardiac abnormalities and a predisposition to arrhythmia.
J Biol Chem
; 298(3): 101716, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35151687
3.
The Canadian Rare Diseases Models and Mechanisms (RDMM) Network: Connecting Understudied Genes to Model Organisms.
Am J Hum Genet
; 106(2): 143-152, 2020 02 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32032513
4.
Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly.
Brain
; 145(6): 1916-1923, 2022 06 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-35202461
5.
Genetic diseases of the Kennedy pathways for membrane synthesis.
J Biol Chem
; 295(51): 17877-17886, 2020 12 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-33454021
6.
Optimized knock-in of point mutations in zebrafish using CRISPR/Cas9.
Nucleic Acids Res
; 46(17): e102, 2018 09 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-29905858
7.
Frizzled 4 regulates ventral blood vessel remodeling in the zebrafish retina.
Dev Dyn
; 248(12): 1243-1256, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31566834
8.
Glycine and Folate Ameliorate Models of Congenital Sideroblastic Anemia.
PLoS Genet
; 12(1): e1005783, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26821380
9.
A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis.
Brain
; 140(3): 547-554, 2017 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28052917
10.
Choline kinase inhibition promotes ER-phagy.
J Lipid Res
; 63(8): 100213, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35447137
11.
Core elements of participant consent documents for Canadian human genomics research and the National Human Genome Library: guidance for policy.
CMAJ
; 194(44): E1500-E1508, 2022 11 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36379551
12.
Defective phosphatidylethanolamine biosynthesis leads to a broad ataxia-spasticity spectrum.
Brain
; 144(3): e30, 2021 04 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33454747
13.
Germline mutations in MAP3K6 are associated with familial gastric cancer.
PLoS Genet
; 10(10): e1004669, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25340522
14.
Lipid synthesis and membrane contact sites: a crossroads for cellular physiology.
J Lipid Res
; 57(10): 1789-1805, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27521373
15.
The mitochondrial quality control protein Yme1 is necessary to prevent defective mitophagy in a yeast model of Barth syndrome.
J Biol Chem
; 290(14): 9284-98, 2015 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-25688091
16.
Study of Glycine and Folic Acid Supplementation to Ameliorate Transfusion Dependence in Congenital SLC25A38 Mutated Sideroblastic Anemia.
Pediatr Blood Cancer
; 63(7): 1307-9, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27038157
17.
Optimized knock-in of point mutations in zebrafish using CRISPR/Cas9.
Nucleic Acids Res
; 46(17): 9252, 2018 09 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-30053067
18.
Choline transport activity regulates phosphatidylcholine synthesis through choline transporter Hnm1 stability.
J Biol Chem
; 288(50): 36106-15, 2013 Dec 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-24187140
19.
Alteration of plasma membrane organization by an anticancer lysophosphatidylcholine analogue induces intracellular acidification and internalization of plasma membrane transporters in yeast.
J Biol Chem
; 288(12): 8419-8432, 2013 Mar 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-23344949
20.
Drug uptake, lipid rafts, and vesicle trafficking modulate resistance to an anticancer lysophosphatidylcholine analogue in yeast.
J Biol Chem
; 288(12): 8405-8418, 2013 Mar 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-23335509