Detalhe da pesquisa
1.
Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature.
J Med Genet
; 61(3): 212-223, 2024 Feb 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37788905
2.
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
3.
CELSR2, encoding a planar cell polarity protein, is a putative gene in Joubert syndrome with cortical heterotopia, microophthalmia, and growth hormone deficiency.
Am J Med Genet A
; 173(3): 661-666, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28052552
4.
Neuronal endolysosomal transport and lysosomal functionality in maintaining axonostasis.
J Cell Biol
; 221(3)2022 02 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35142819
5.
Lipid-mediated impairment of axonal lysosome transport contributing to autophagic stress.
Autophagy
; 17(7): 1796-1798, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34085599
6.
Lipid-mediated motor-adaptor sequestration impairs axonal lysosome delivery leading to autophagic stress and dystrophy in Niemann-Pick type C.
Dev Cell
; 56(10): 1452-1468.e8, 2021 05 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-33878344
7.
The secret life of degradative lysosomes in axons: delivery from the soma, enzymatic activity, and local autophagic clearance.
Autophagy
; 16(1): 167-168, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31533518
8.
Neuronal Soma-Derived Degradative Lysosomes Are Continuously Delivered to Distal Axons to Maintain Local Degradation Capacity.
Cell Rep
; 28(1): 51-64.e4, 2019 07 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31269450
9.
A clinical report of Chediak-Higashi syndrome in infancy with a novel genotype from the Indian subcontinent.
Int J Dermatol
; 55(3): 317-21, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26499269