A case of a childhood onset developmental encephalopathy with a novel de novo truncating variant in the Membrane Protein Palmitoylated 5 (MPP5) gene-Reference-Cited by-同舟云学术

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A case of a childhood onset developmental encephalopathy with a novel de novo truncating variant in the Membrane Protein Palmitoylated 5 (MPP5) gene

Published:2023-01 Issue: Volume: Page:
ISSN:1059-1311
Container-title:Seizure
language:en
Short-container-title:Seizure

Author:

Zanotta Nicoletta^ORCID,Panzeri Elena,Minghetti Sara,Citterio Andrea^ORCID,Giorda Roberto^ORCID,Marelli Susan,Bassi Maria Teresa^ORCID,Zucca Claudio^ORCID

Funder

Ministero della Salute

Publisher

Elsevier BV

Subject

Neurology (clinical),Neurology,General Medicine

Reference7 articles.

1. Linking cell polarity to cortical development and malformations;Hakanen;Front Cell Neurosci.,2019

2. De novo variants in MPP5 cause global developmental delay and behavioral changes;Sterling;Hum Mol Genet,2020

3. Direct interaction of two polarity complexes implicated in epithelial tight junction assembly;Hurd;Nat Cell Biol,2003

4. Molecular cloning and characterization of Pals, proteins associated with mLin-7;Kamberov;J Biol Chem,2000

5. The carboxyl terminus of zona occludens-3 binds and recruits a mammalian homologue of discs lost to tight junctions;Roh;J Biol Chem,2002

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy;Nature Communications;2024-08-22

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