Literature DB >> 27448726

Broad clinical phenotype in Parkinsonism associated with a base pair deletion in RAB39B and additional POLG variant.

Max Güldner1, Claudia Schulte1, Ann-Kathrin Hauser1, Thomas Gasser1, Kathrin Brockmann2.   

Abstract

Entities:  

Keywords:  Intellectual disability; Parkinson; RAB39B; Spastic paraplegia

Mesh：

Substances：

Year:  2016        PMID： 27448726     DOI： 10.1016/j.parkreldis.2016.07.005

Source DB:  PubMed          Journal:  Parkinsonism Relat Disord        ISSN： 1353-8020            Impact factor:   4.891


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  7 in total

1.  Clinical characterization of a novel RAB39B nonstop mutation in a family with ASD and severe ID causing RAB39B downregulation and study of a Rab39b knock down mouse model.

Authors:  Maria Lidia Mignogna; Romina Ficarella; Susanna Gelmini; Lucia Marzulli; Emanuela Ponzi; Alessandra Gabellone; Antonia Peschechera; Massino Alessio; Lucia Margari; Mattia Gentile; Patrizia D'Adamo
Journal:  Hum Mol Genet       Date:  2022-05-04       Impact factor: 5.121

2.  Novel RAB39B mutation (c.309G > A)-related spastic paraparasis: case report.

Authors:  Hang Liu; Hongyu Lai; Lijuan Mo; Xi Liu; Lifen Chen
Journal:  Acta Neurol Belg       Date:  2022-10-19       Impact factor: 2.471

Review 3.  Rab GTPases: The Key Players in the Molecular Pathway of Parkinson's Disease.

Authors:  Meng-Meng Shi; Chang-He Shi; Yu-Ming Xu
Journal:  Front Cell Neurosci       Date:  2017-03-28       Impact factor: 5.505

Review 4.  Rab GTPases: Switching to Human Diseases.

Authors:  Noemi Antonella Guadagno; Cinzia Progida
Journal:  Cells       Date:  2019-08-16       Impact factor: 6.600

Review 5.  Coordination of AMPA receptor trafficking by Rab GTPases.

Authors:  Angelika Hausser; Katalin Schlett
Journal:  Small GTPases       Date:  2017-07-05

Review 6.  The Role of Rab Proteins in Parkinson's Disease Synaptopathy.

Authors:  Arianna Bellucci; Francesca Longhena; Maria Grazia Spillantini
Journal:  Biomedicines       Date:  2022-08-10

7.  RAB39B-mediated trafficking of the GluA2-AMPAR subunit controls dendritic spine maturation and intellectual disability-related behaviour.

Authors:  Maria Lidia Mignogna; Stefano Musardo; Giulia Ranieri; Susanna Gelmini; Pedro Espinosa; Paolo Marra; Sara Belloli; Valentina Murtaj; Rosa Maria Moresco; Camilla Bellone; Patrizia D'Adamo
Journal:  Mol Psychiatry       Date:  2021-05-25       Impact factor: 15.992
  7 in total

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