Novel PLEKHG5 mutations in a patient with childhood‐onset lower motor neuron disease-Reference-Cited by-同舟云学术

Novel PLEKHG5 mutations in a patient with childhood‐onset lower motor neuron disease

Published:2020-12-04 Issue:1 Volume:8 Page:294-299
ISSN:2328-9503
Container-title:Annals of Clinical and Translational Neurology
language:en
Short-container-title:Ann. Clin. Transl. Neurol.

Author:

Gonzalez‐Quereda Lidia¹²^ORCID,Pagola Inmaculada³,Fuentes Prior Pablo⁴,Bernal Sara¹²,Rodriguez Maria Jose¹,Torné Laura³,Salgado Garrido Josefa⁵,Gallano Pia¹²,Jericó Ivonne³

Affiliation:

1. Genetics Department IIB Sant Pau, Hospital de Sant Pau Barcelona08041Spain

2. U705 CIBERER Instituto de Salud Carlos III Madrid28029Spain

3. Neurology Department Complejo Universitario de NavarraIdisNa Navarra31008Spain

4. Molecular Bases of Disease Biomedical Research Institute Sant Pau (IIB Sant Pau)Hospital de la Santa Creu i Sant Pau Barcelona08041Spain

5. Genomic Medicine Navarrabiomed Complejo Hospitalario de Navarra (CHN)‐Universidad Pública de Navarra (UPNA)IdisNa Pamplona31008Spain

Funder

Instituto de Salud Carlos III

Fundación Mutua Madrileña

Publisher

Wiley

Subject

Neurology (clinical),General Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/acn3.51265

Reference16 articles.

1. Tech: a RhoA GEF selectively expressed in hippocampal and cortical neurons

2. Phosphorylation-mediated 14-3-3 Protein Binding Regulates the Function of the Rho-specific Guanine Nucleotide Exchange Factor (RhoGEF) Syx*

3. The Rho Guanine Nucleotide Exchange Factor Syx Regulates the Balance of Dia and ROCK Activities To Promote Polarized-Cancer-Cell Migration

4. The Nuclear Factor κB–Activator Gene PLEKHG5 Is Mutated in a Form of Autosomal Recessive Lower Motor Neuron Disease with Childhood Onset

5. The gene for a new brain specific RhoA exchange factor maps to the highly unstable chromosomal region 1p36.2–1p36.3.

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