Impairment of lipophagy by PNPLA1 mutations causes lipid droplet accumulation in primary fibroblasts of Autosomal Recessive Congenital Ichthyosis patients-Reference-Cited by-同舟云学术

Impairment of lipophagy by PNPLA1 mutations causes lipid droplet accumulation in primary fibroblasts of Autosomal Recessive Congenital Ichthyosis patients

Published:2019-01 Issue:1 Volume:93 Page:50-57
ISSN:0923-1811
Container-title:Journal of Dermatological Science
language:en
Short-container-title:Journal of Dermatological Science

Author:

Onal Gizem,Kutlu Ozlem,Ozer Ebru,Gozuacik Devrim,Karaduman Aysen,Dokmeci Emre Serap

Funder

Hacettepe University Scientific Research Projects Coordination Unit

The Scientific and Technological Research Council of Turkey (TUBITAK)- BIDEB 2211

Publisher

Elsevier BV

Subject

Dermatology,Molecular Biology,Biochemistry

Reference39 articles.

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2. Autosomal recessive congenital ichthyosis;Rodríguez-Pazos;Actas Dermosifiliogr.,2013

3. Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2;Lefèvre;Hum. Mol. Genet.,2003

4. Lipoxygenase-3 (ALOXE3) and 12 (R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13. 1;Jobard;Hum. Mol. Genet.,2002

5. Identification, by homozygosity mapping, of a novel locus for autosomal recessive congenital ichthyosis on chromosome17p, and evidence for further genetic heterogeneity;Krebsová;Am. J. Hum. Genet.,2001

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1. Potential role of lipophagy impairment for anticancer effects of glycolysis-suppressed pancreatic ductal adenocarcinoma cells;Cell Death Discovery;2024-04-05

2. The PNPLA family of enzymes: characterisation and biological role;Archives of Industrial Hygiene and Toxicology;2023-06-01

3. PNPLA1-Mediated Acylceramide Biosynthesis and Autosomal Recessive Congenital Ichthyosis;Metabolites;2022-07-26

4. Lipolysis: cellular mechanisms for lipid mobilization from fat stores;Nature Metabolism;2021-11

5. Alterations of Ultra Long-Chain Fatty Acids in Hereditary Skin Diseases—Review Article;Frontiers in Medicine;2021-08-23