Detalhe da pesquisa
1.
Atp7b-dependent choroid plexus dysfunction causes transient copper deficit and metabolic changes in the developing mouse brain.
PLoS Genet
; 19(1): e1010558, 2023 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-36626371
2.
α-lipoic acid ameliorates consequences of copper overload by up-regulating selenoproteins and decreasing redox misbalance.
Proc Natl Acad Sci U S A
; 120(40): e2305961120, 2023 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-37751556
3.
Missing heritability of Wilson disease: a search for the uncharacterized mutations.
Mamm Genome
; 34(1): 1-11, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36462057
4.
Dopamine ß hydroxylase (DBH) polymorphisms do not contribute towards the clinical course of Wilson's disease in Indian patients.
J Gene Med
; 21(9): e3109, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31265749
5.
Influence of Apolipoprotein E polymorphism on susceptibility of Wilson disease.
Ann Hum Genet
; 82(2): 53-59, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29059476
6.
Mechanism of Cu entry into the brain: many unanswered questions.
Neural Regen Res
; 19(11): 2421-2429, 2024 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38526278
7.
An Effort to Identify Genetic Determinants in Siblings With Wilson Disease Manifesting Striking Clinical Heterogeneity: An Exome Profiling Study of Two Indian Families.
Pediatr Neurol
; 155: 1-7, 2024 Mar 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38552405
8.
Parkinson's disease-associated 18 bp promoter variant of DJ-1 alters REST binding and regulates its expression.
Neurosci Lett
; 795: 137051, 2023 01 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-36603736
9.
Heterogeneous nuclear ribonucleoprotein hnRNPA2/B1 regulates the abundance of the copper-transporter ATP7A in an isoform-dependent manner.
Front Mol Biosci
; 9: 1067490, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-36545508
10.
Association of TOR1A and GCH1 Polymorphisms with Isolated Dystonia in India.
J Mol Neurosci
; 71(2): 325-337, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32662044
11.
Convolvulus pluricaulis extract can modulate synaptic plasticity in rat brain hippocampus.
Neuroreport
; 31(8): 597-604, 2020 05 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-32282574
12.
Analysis of Wilson disease mutations revealed that interactions between different ATP7B mutants modify their properties.
Sci Rep
; 10(1): 13487, 2020 08 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32778786
13.
A Compound Heterozygote for GCH1 Mutation Represents a Case of Atypical Dopa-Responsive Dystonia.
J Mol Neurosci
; 68(2): 214-220, 2019 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-30911941
14.
Potential Role of Brain-Derived Neurotrophic Factor and Dopamine Receptor D2 Gene Variants as Modifiers for the Susceptibility and Clinical Course of Wilson's Disease.
Neuromolecular Med
; 20(3): 401-408, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29992511