Detalhe da pesquisa
1.
Lysosomal Storage and Albinism Due to Effects of a De Novo CLCN7 Variant on Lysosomal Acidification.
Am J Hum Genet
; 104(6): 1127-1138, 2019 06 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31155284
2.
Progressive pulmonary fibrosis in a murine model of Hermansky-Pudlak syndrome.
Respir Res
; 23(1): 112, 2022 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35509004
3.
Diagnosis of Chediak Higashi disease in a 67-year old woman.
Am J Med Genet A
; 182(12): 3007-3013, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-32990340
4.
Retraction Notice to: A BLOC-1 Mutation Screen Reveals that PLDN Is Mutated in Hermansky-Pudlak Syndrome Type 9.
Am J Hum Genet
; 100(5): 837, 2017 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28475864
5.
In vitro functional correction of Hermansky-Pudlak Syndrome type-1 by lentiviral-mediated gene transfer.
Mol Genet Metab
; 114(1): 62-5, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25468649
6.
Dysregulation of galectin-3. Implications for Hermansky-Pudlak syndrome pulmonary fibrosis.
Am J Respir Cell Mol Biol
; 50(3): 605-13, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24134621
7.
A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9.
Am J Hum Genet
; 88(6): 778-787, 2011 Jun 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-21665000
8.
Non-specific accumulation of glycosphingolipids in GNE myopathy.
J Inherit Metab Dis
; 37(2): 297-308, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24136589
9.
Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene.
Hum Genet
; 132(12): 1383-93, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23925499
10.
A model of Costeff Syndrome reveals metabolic and protective functions of mitochondrial OPA3.
Development
; 137(15): 2587-96, 2010 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-20627962
11.
cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome.
Front Genet
; 14: 1072784, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36968585
12.
Oral monosaccharide therapies to reverse renal and muscle hyposialylation in a mouse model of GNE myopathy.
Mol Genet Metab
; 107(4): 748-55, 2012 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23122659
13.
Vascular pathology of medial arterial calcifications in NT5E deficiency: implications for the role of adenosine in pseudoxanthoma elasticum.
Mol Genet Metab
; 103(1): 44-50, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21371928
14.
Activation of hormone-sensitive lipase requires two steps, protein phosphorylation and binding to the PAT-1 domain of lipid droplet coat proteins.
J Biol Chem
; 284(46): 32116-25, 2009 11 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-19717842
15.
OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria.
Mol Genet Metab
; 100(2): 149-54, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20350831
16.
Novel 47.5-kb deletion in RAB27A results in severe Griscelli Syndrome Type 2.
Mol Genet Metab
; 101(1): 62-5, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20591709
17.
Perilipin A is essential for the translocation of hormone-sensitive lipase during lipolytic activation.
J Cell Biol
; 161(6): 1093-103, 2003 Jun 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-12810697
18.
Mutation of a conserved hydrophobic patch prevents incorporation of ZP3 into the zona pellucida surrounding mouse eggs.
Mol Cell Biol
; 23(24): 8982-91, 2003 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-14645511
19.
Intravenous immune globulin in hereditary inclusion body myopathy: a pilot study.
BMC Neurol
; 7: 3, 2007 Jan 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-17261181
20.
Neurologic involvement in patients with atypical Chediak-Higashi disease.
Neurology
; 88(7): e57-e65, 2017 02 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-28193763