A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy

American Journal of Human Genetics - United States
doi 10.1016/j.ajhg.2019.04.001
Full Text
Abstract

Available in full text

Categories
Genetics
Date
Authors
Publisher

Elsevier BV

Related search

A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

American Journal of Human Genetics
Genetics
2018English

Phosphoinositide Regulation of Clathrin-Mediated Endocytosis

Biochemical Society Transactions
Biochemistry
2005English

Clathrin-Mediated Endocytosis Is Inhibited During Mitosis

Proceedings of the National Academy of Sciences of the United States of America
Multidisciplinary
2012English

Cargo- And Adaptor-Specific Mechanisms Regulate Clathrin-Mediated Endocytosis

Journal of Cell Biology
MedicineCell Biology
2010English

Mechanoregulation of Clathrin-Mediated Endocytosis in Isolated Cells and Developing Tissues

Biophysical Journal
Biophysics
2017English

A Functional GFP Fusion for Imaging Clathrin-Mediated Endocytosis

Traffic
BiochemistryGeneticsCell BiologyMolecular BiologyStructural Biology
2008English

Ikarugamycin: A Natural Product Inhibitor of Clathrin-Mediated Endocytosis

Traffic
BiochemistryGeneticsCell BiologyMolecular BiologyStructural Biology
2016English

Rapid and Efficient Clathrin-Mediated Endocytosis Revealed in Genome-Edited Mammalian Cells

Nature Cell Biology
Cell Biology
2011English

Control of Clathrin-Mediated Endocytosis by NIMA Family Kinases

PLoS Genetics
EvolutionEcologyGeneticsMolecular BiologyCancer ResearchSystematicsBehavior
2020English

Amanote Research

Note-taking for researchers

Follow Amanote

© 2024 Amaplex Software S.P.R.L. All rights reserved.

Privacy PolicyRefund Policy