Detalhe da pesquisa
1.
Newly identified disorder of copper metabolism caused by variants in CTR1, a high-affinity copper transporter.
Hum Mol Genet
; 31(24): 4121-4130, 2022 12 16.
Artigo
Inglês
| MEDLINE | ID: mdl-35913762
2.
Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype.
PLoS Genet
; 15(5): e1008143, 2019 05.
Artigo
Inglês
| MEDLINE | ID: mdl-31125343
3.
Neck masses due to internal jugular vein phlebectasia: Frequency in Menkes disease and literature review of 85 pediatric subjects.
Am J Med Genet A
; 182(6): 1364-1377, 2020 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32293788
4.
Interaction between the AAA ATPase p97/VCP and a concealed UBX domain in the copper transporter ATP7A is associated with motor neuron degeneration.
J Biol Chem
; 293(20): 7606-7617, 2018 05 18.
Artigo
Inglês
| MEDLINE | ID: mdl-29599289
5.
Copper Regulates Maturation and Expression of an MITF:Tryptase Axis in Mast Cells.
J Immunol
; 199(12): 4132-4141, 2017 12 15.
Artigo
Inglês
| MEDLINE | ID: mdl-29127151
6.
The Activity of Menkes Disease Protein ATP7A Is Essential for Redox Balance in Mitochondria.
J Biol Chem
; 291(32): 16644-58, 2016 08 05.
Artigo
Inglês
| MEDLINE | ID: mdl-27226607
7.
Direct interactions of adaptor protein complexes 1 and 2 with the copper transporter ATP7A mediate its anterograde and retrograde trafficking.
Hum Mol Genet
; 24(9): 2411-25, 2015 May 01.
Artigo
Inglês
| MEDLINE | ID: mdl-25574028
8.
Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin.
Am J Hum Genet
; 90(1): 61-8, 2012 Jan 13.
Artigo
Inglês
| MEDLINE | ID: mdl-22243965
9.
Menkes disease with discordant phenotype in female monozygotic twins.
Am J Med Genet A
; 167A(11): 2826-9, 2015 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-26239182
10.
Altered intracellular localization and valosin-containing protein (p97 VCP) interaction underlie ATP7A-related distal motor neuropathy.
Hum Mol Genet
; 21(8): 1794-807, 2012 Apr 15.
Artigo
Inglês
| MEDLINE | ID: mdl-22210628
11.
Molecular and biochemical characterization of Mottled-dappled, an embryonic lethal Menkes disease mouse model.
Mol Genet Metab
; 113(4): 294-300, 2014 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-25456742
12.
L-threo-dihydroxyphenylserine corrects neurochemical abnormalities in a Menkes disease mouse model.
Ann Neurol
; 73(2): 259-65, 2013 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-23224983
13.
Short report: Twins with 20p13 duplication. Case report and comprehensive literature review.
Mol Genet Genomic Med
; 12(5): e2436, 2024 May.
Artigo
Inglês
| MEDLINE | ID: mdl-38738460
14.
Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathy.
Am J Hum Genet
; 86(3): 343-52, 2010 Mar 12.
Artigo
Inglês
| MEDLINE | ID: mdl-20170900
15.
Pregnancy, pregnancy outcomes, and infant growth and development after recovery from Ebola virus disease in Liberia: an observational cohort study.
Lancet Glob Health
; 11(7): e1053-e1060, 2023 07.
Artigo
Inglês
| MEDLINE | ID: mdl-37349033
16.
Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase.
Hum Mutat
; 33(8): 1207-15, 2012 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-22508683
17.
In utero copper treatment for Menkes disease associated with a severe ATP7A mutation.
Mol Genet Metab
; 107(1-2): 222-8, 2012 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-22695177
18.
ATP7A gene addition to the choroid plexus results in long-term rescue of the lethal copper transport defect in a Menkes disease mouse model.
Mol Ther
; 19(12): 2114-23, 2011 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-21878905
19.
Cervical spine anomalies in Menkes disease: a radiologic finding potentially confused with child abuse.
Pediatr Radiol
; 42(11): 1301-4, 2012 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-22825777
20.
Transduction characteristics of alternative adeno-associated virus serotypes in the cat brain by intracisternal delivery.
Mol Ther Methods Clin Dev
; 26: 384-393, 2022 Sep 08.
Artigo
Inglês
| MEDLINE | ID: mdl-36034772