Detalhe da pesquisa
1.
Peroxisomal biogenesis is genetically and biochemically linked to carbohydrate metabolism in Drosophila and mouse.
PLoS Genet
; 13(6): e1006825, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28640802
2.
Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila.
Hum Mol Genet
; 25(9): 1846-56, 2016 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26931468
3.
Drosophila Models Uncover Substrate Channeling Effects on Phospholipids and Sphingolipids in Peroxisomal Biogenesis Disorders.
bioRxiv
; 2024 Apr 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-38746221
4.
Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases.
Cell Rep
; 38(11): 110517, 2022 03 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35294868
5.
Dataset for a case report of a homozygous PEX16 F332del mutation.
Data Brief
; 6: 722-7, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26870756
6.
A homozygous mutation in PEX16 identified by whole-exome sequencing ending a diagnostic odyssey.
Mol Genet Metab Rep
; 5: 15-18, 2015 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26644994