Literature DB >> 27459931

RAB39B gene mutations are not a common cause of Parkinson's disease or dementia with Lewy bodies.

Kyndall Hodges1, Sheridan S Brewer2, Catherine Labbé2, Alexandra I Soto-Ortolaza1, Ronald L Walton2, Audrey J Strongosky3, Ryan J Uitti3, Jay A van Gerpen3, Nilüfer Ertekin-Taner4, Kejal Kantarci5, Val J Lowe5, Joseph E Parisi6, Rodolfo Savica7, Jonathan Graff-Radford7, David T Jones8, David S Knopman7, Ronald C Petersen7, Melissa E Murray2, Neill R Graff-Radford9, Tanis J Ferman10, Dennis W Dickson2, Zbigniew K Wszolek3, Bradley F Boeve7, Owen A Ross11, Oswaldo Lorenzo-Betancor12.   

Abstract

Mutations in Ras-related protein Rab-39B (RAB39B) gene have been linked to X-linked early-onset Parkinsonism with intellectual disabilities. The aim of this study was to address the genetic contribution of RAB39B to Parkinson's disease (PD), dementia with Lewy bodies (DLB), and pathologically confirmed Lewy body dementia (pLBD) cases. A cohort of 884 PD, 399 DLB, and 379 pLBD patients were screened for RAB39B mutations, but no coding variants were found, suggesting RAB39B mutations are not a common cause of PD, DLB, or pLBD in Caucasian population.
Copyright © 2016 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Dementia with Lewy bodies; Lewy body dementia; Parkinson's disease; RAB39B

Mesh：

Substances：

Year:  2016        PMID： 27459931      PMCID： PMC5954832          DOI： 10.1016/j.neurobiolaging.2016.03.021

Source DB:  PubMed          Journal:  Neurobiol Aging        ISSN： 0197-4580            Impact factor:   4.673


  5 in total

1.  RAB39B mutations are a rare finding in Parkinson disease patients.

Authors:  Tobias Löchte; Norbert Brüggemann; Eva-Juliane Vollstedt; Patricia Krause; Aloysius Domingo; Raymond Rosales; Lillian V Lee; Franziska Hopfner; Ana Westenberger; Andrea Kühn; Christine Klein; Katja Lohmann
Journal:  Parkinsonism Relat Disord       Date:  2015-12-22       Impact factor: 4.891

2.  Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology.

Authors:  Gabrielle R Wilson; Joe C H Sim; Catriona McLean; Maila Giannandrea; Charles A Galea; Jessica R Riseley; Sarah E M Stephenson; Elizabeth Fitzpatrick; Stefan A Haas; Kate Pope; Kirk J Hogan; Ronald G Gregg; Catherine J Bromhead; David S Wargowski; Christopher H Lawrence; Paul A James; Andrew Churchyard; Yujing Gao; Dean G Phelan; Greta Gillies; Nicholas Salce; Lynn Stanford; Ashley P L Marsh; Maria L Mignogna; Susan J Hayflick; Richard J Leventer; Martin B Delatycki; George D Mellick; Vera M Kalscheuer; Patrizia D'Adamo; Melanie Bahlo; David J Amor; Paul J Lockhart
Journal:  Am J Hum Genet       Date:  2014-11-26       Impact factor: 11.025

3.  Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly.

Authors:  Maila Giannandrea; Veronica Bianchi; Maria Lidia Mignogna; Alessandra Sirri; Salvatore Carrabino; Errico D'Elia; Matteo Vecellio; Silvia Russo; Francesca Cogliati; Lidia Larizza; Hans-Hilger Ropers; Andreas Tzschach; Vera Kalscheuer; Barbara Oehl-Jaschkowitz; Cindy Skinner; Charles E Schwartz; Jozef Gecz; Hilde Van Esch; Martine Raynaud; Jamel Chelly; Arjan P M de Brouwer; Daniela Toniolo; Patrizia D'Adamo
Journal:  Am J Hum Genet       Date:  2010-02-12       Impact factor: 11.025

4.  The RAB39B p.G192R mutation causes X-linked dominant Parkinson's disease.

Authors:  Ignacio F Mata; Yongwoo Jang; Chun-Hyung Kim; David S Hanna; Michael O Dorschner; Ali Samii; Pinky Agarwal; John W Roberts; Olga Klepitskaya; David R Shprecher; Kathryn A Chung; Stewart A Factor; Alberto J Espay; Fredy J Revilla; Donald S Higgins; Irene Litvan; James B Leverenz; Dora Yearout; Miguel Inca-Martinez; Erica Martinez; Tiffany R Thompson; Brenna A Cholerton; Shu-Ching Hu; Karen L Edwards; Kwang-Soo Kim; Cyrus P Zabetian
Journal:  Mol Neurodegener       Date:  2015-09-24       Impact factor: 14.195

5.  Loss-of-function mutations in RAB39B are associated with typical early-onset Parkinson disease.

Authors:  Suzanne Lesage; Jose Bras; Florence Cormier-Dequaire; Christel Condroyer; Aude Nicolas; Lee Darwent; Rita Guerreiro; Elisa Majounie; Monica Federoff; Peter Heutink; Nicholas W Wood; Thomas Gasser; John Hardy; François Tison; Andrew Singleton; Alexis Brice
Journal:  Neurol Genet       Date:  2015-06-18
  5 in total
  7 in total

1.  Intrafamilial variable phenotype including corticobasal syndrome in a family with p.P301L mutation in the MAPT gene: first report in South America.

Authors:  Emilia M Gatto; Ricardo F Allegri; Gustavo Da Prat; Patricio Chrem Mendez; David S Hanna; Michael O Dorschner; Ezequiel I Surace; Cyrus P Zabetian; Ignacio F Mata
Journal:  Neurobiol Aging       Date:  2017-02-10       Impact factor: 4.673

Review 2.  Dementia with Lewy bodies and Parkinson's disease-dementia: current concepts and controversies.

Authors:  Kurt A Jellinger
Journal:  J Neural Transm (Vienna)       Date:  2017-12-08       Impact factor: 3.575

3.  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

4.  Are dementia with Lewy bodies and Parkinson's disease dementia the same disease?

Authors:  Kurt A Jellinger; Amos D Korczyn
Journal:  BMC Med       Date:  2018-03-06       Impact factor: 8.775

Review 5.  The Genetics of Dementia with Lewy Bodies: Current Understanding and Future Directions.

Authors:  Tatiana Orme; Rita Guerreiro; Jose Bras
Journal:  Curr Neurol Neurosci Rep       Date:  2018-08-10       Impact factor: 5.081

Review 6.  Rab GTPases: Switching to Human Diseases.

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

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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