Detalhe da pesquisa
1.
Bi-allelic Mutations in NADSYN1 Cause Multiple Organ Defects and Expand the Genotypic Spectrum of Congenital NAD Deficiency Disorders.
Am J Hum Genet;
106(1): 129-136, 2020 01 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31883644
2.
NAD deficiency due to environmental factors or gene-environment interactions causes congenital malformations and miscarriage in mice.
Proc Natl Acad Sci U S A;
117(7): 3738-3747, 2020 02 18.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32015132
3.
Simultaneous quantification of 26 NAD-related metabolites in plasma, blood, and liver tissue using UHPLC-MS/MS.
Anal Biochem;
633: 114409, 2021 11 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34648806
4.
Identification of clinically actionable variants from genome sequencing of families with congenital heart disease.
Genet Med;
21(5): 1111-1120, 2019 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30293987
5.
Key Structural Determinants in the Agonist Binding Loops of Human ß2 and ß4 Nicotinic Acetylcholine Receptor Subunits Contribute to α3ß4 Subtype Selectivity of α-Conotoxins.
J Biol Chem;
291(45): 23779-23792, 2016 Nov 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27646000
6.
Molecular Basis for Differential Sensitivity of α-Conotoxin RegIIA at Rat and Human Neuronal Nicotinic Acetylcholine Receptors.
Mol Pharmacol;
88(6): 993-1001, 2015 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26438212
7.
Novel mechanism of voltage-gated N-type (Cav2.2) calcium channel inhibition revealed through α-conotoxin Vc1.1 activation of the GABA(B) receptor.
Mol Pharmacol;
87(2): 240-50, 2015 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25425625
8.
Identifying key amino acid residues that affect α-conotoxin AuIB inhibition of α3ß4 nicotinic acetylcholine receptors.
J Biol Chem;
288(48): 34428-42, 2013 Nov 29.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24100032
9.
A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder.
J Clin Invest;
134(4)2024 Feb 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38357931
10.
Kv3.1 channels stimulate adult neural precursor cell proliferation and neuronal differentiation.
J Physiol;
591(10): 2579-91, 2013 May 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23478135
11.
γ-Aminobutyric acid type B (GABAB) receptor expression is needed for inhibition of N-type (Cav2.2) calcium channels by analgesic α-conotoxins.
J Biol Chem;
287(28): 23948-57, 2012 Jul 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22613715
12.
Nicotinamide Adenine Dinucleotide Deficiency and Its Impact on Mammalian Development.
Antioxid Redox Signal;
39(16-18): 1108-1132, 2023 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37300479
13.
Maternal heterozygosity of Slc6a19 causes metabolic perturbation and congenital NAD deficiency disorder in mice.
Dis Model Mech;
16(5)2023 05 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36374036
14.
Calmodulin is a functional regulator of Cav1.4 L-type Ca2+ channels.
J Biol Chem;
284(43): 29809-16, 2009 Oct 23.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19717559
15.
The two-pore channel TPCN2 mediates NAADP-dependent Ca(2+)-release from lysosomal stores.
Pflugers Arch;
458(5): 891-9, 2009 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-19557428
16.
α-Conotoxins active at α3-containing nicotinic acetylcholine receptors and their molecular determinants for selective inhibition.
Br J Pharmacol;
175(11): 1855-1868, 2018 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28477355
17.
A Screening Approach to Identify Clinically Actionable Variants Causing Congenital Heart Disease in Exome Data.
Circ Genom Precis Med;
11(3): e001978, 2018 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29555671
18.
CHDgene: A Curated Database for Congenital Heart Disease Genes.
Circ Genom Precis Med;
15(3): e003539, 2022 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35522174
19.
Differential Cav2.1 and Cav2.3 channel inhibition by baclofen and α-conotoxin Vc1.1 via GABAB receptor activation.
J Gen Physiol;
143(4): 465-79, 2014 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24688019
20.
High susceptibility to fatty liver disease in two-pore channel 2-deficient mice.
Nat Commun;
5: 4699, 2014 Aug 21.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25144390