A novel human Cdh1 mutation impairs anaphase promoting complex/cyclosome activity resulting in microcephaly, psychomotor retardation, and epilepsy-Reference-Cited by-同舟云学术

A novel human Cdh1 mutation impairs anaphase promoting complex/cyclosome activity resulting in microcephaly, psychomotor retardation, and epilepsy

Published:2019-08-22 Issue:1 Volume:151 Page:103-115
ISSN:0022-3042
Container-title:Journal of Neurochemistry
language:en
Short-container-title:J. Neurochem.

Author:

Rodríguez Cristina¹²,Sánchez‐Morán Irene¹²,Álvarez Sara³,Tirado Pilar⁴,Fernández‐Mayoralas Daniel M.⁵,Calleja‐Pérez Beatriz⁶,Almeida Ángeles¹²^ORCID,Fernández‐Jaén Alberto⁵

Affiliation:

1. Instituto de Investigación Biomédica de Salamanca, Hospital Universitario de Salamanca, CSIC Universidad de Salamanca Salamanca Spain

2. Instituto de Biología Funcional y Genómica, CSIC Universidad de Salamanca Salamanca Spain

3. Genómica y Medicina NIMGenetics Madrid Spain

4. Departamento de Neuropediatría Hospital Universitario La Paz Madrid Spain

5. Departamento de Neurología Infantil, Hospital Universitario Quirónsalud Universidad Europea de Madrid Madrid Spain

6. Centro de Salud Doctor Cirajas Servicio de Atención Primaria de Salud Madrid Spain

Funder

Fundación Ramón Areces

Instituto de Salud Carlos III

European Regional Development Fund

Publisher

Wiley

Subject

Cellular and Molecular Neuroscience,Biochemistry

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/jnc.14828

Reference42 articles.

1. Regulation of APC/C-Cdh1 and Its Function in Neuronal Survival

2. Cdh1/Hct1-APC Is Essential for the Survival of Postmitotic Neurons

3. De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

4. Involvement of the SCF Complex in the Control of Cdh1 Degradation in S-phase

5. APC/CCdh1-Rock2 pathway controls dendritic integrity and memory

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