| Novel RAB39B Mutation Causes Parkinsonism in Males with Developmental Disorder. | Novel RAB39B Mutation Causes Parkinsonism in Males with Developmental Disorder.
Dayan R, Shkedi Rafid S, Baker Erdman H, Weill C, Shag A, Meiner V, Arkadir D., Free PMC Article | 03/13/2024 |
| Deficiency of RAB39B Activates ER Stress-Induced Pro-apoptotic Pathway and Causes Mitochondrial Dysfunction and Oxidative Stress in Dopaminergic Neurons by Impairing Autophagy and Upregulating alpha-Synuclein. | Deficiency of RAB39B Activates ER Stress-Induced Pro-apoptotic Pathway and Causes Mitochondrial Dysfunction and Oxidative Stress in Dopaminergic Neurons by Impairing Autophagy and Upregulating α-Synuclein.
Chiu CC, Weng YH, Yeh TH, Lu JC, Chen WS, Li AH, Chen YL, Wei KC, Wang HL. | 03/29/2023 |
| 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. | 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.
Mignogna ML, Ficarella R, Gelmini S, Marzulli L, Ponzi E, Gabellone A, Peschechera A, Alessio M, Margari L, Gentile M, D'Adamo P., Free PMC Article | 05/14/2022 |
| RAB39B is redistributed in dementia with Lewy bodies and is sequestered within abeta plaques and Lewy bodies. | RAB39B is redistributed in dementia with Lewy bodies and is sequestered within aβ plaques and Lewy bodies.
Koss DJ, Bondarevaite O, Adams S, Leite M, Giorgini F, Attems J, Outeiro TF., Free PMC Article | 12/25/2021 |
| we report on two novel RAB39B frameshift variants associated with X-linked Parkinsonism associated with Intellectual Disability and we also describe, for the first time, a somatic mosaicism in a patient carrying RAB39B mutation | X-linked Parkinsonism with Intellectual Disability caused by novel mutations and somatic mosaicism in RAB39B gene.
Ciammola A, Carrera P, Di Fonzo A, Sassone J, Villa R, Poletti B, Ferrari M, Girotti F, Monfrini E, Buongarzone G, Silani V, Cinnante CM, Mignogna ML, D'Adamo P, Bonati MT. | 07/28/2018 |
| results suggest that RAB39B mutation is very rare in familial PD and may not be a major cause of familial PD in the Chinese Han Population | RAB39B gene mutations are not linked to familial Parkinson's disease in China.
Kang JF, Luo Y, Tang BS, Wan CM, Yang Y, Li K, Liu ZH, Sun QY, Xu Q, Yan XX, Guo JF., Free PMC Article | 06/16/2018 |
| This study identified two patients carrying a variant in RAB39B out of 344 male patients with Parkinsonsim. | Broad clinical phenotype in Parkinsonism associated with a base pair deletion in RAB39B and additional POLG variant.
Güldner M, Schulte C, Hauser AK, Gasser T, Brockmann K. | 05/19/2018 |
| Direct sequencing analysis of all coding exons and exon-intron boundaries was performed to detect small sequence alterations in RAB39B gene | Mutations analysis of RAB39B gene in Chinese early-onset Parkinson's disease.
Liu Z, Tang B, Guo J, Zhou X, Sun Q, Xu Q, Xu C, Yan X. | 04/21/2018 |
| penetrance for autism spectrum disorder is high among males but more variable among females with RAB39B mutations; a critical role for this gene in brain development and function is demonstrated | Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly.
Woodbury-Smith M, Deneault E, Yuen RKC, Walker S, Zarrei M, Pellecchia G, Howe JL, Hoang N, Uddin M, Marshall CR, Chrysler C, Thompson A, Szatmari P, Scherer SW., Free PMC Article | 03/24/2018 |
| X-linked juvenile parkinsonism could be caused by a RAB39B mutation, and basal ganglia calcification may be a novel clinical feature of RAB39B-related parkinsonism. | A novel RAB39B gene mutation in X-linked juvenile parkinsonism with basal ganglia calcification.
Shi CH, Zhang SY, Yang ZH, Yang J, Shang DD, Mao CY, Liu H, Hou HM, Shi MM, Wu J, Xu YM. | 12/30/2017 |
| RAB39B mutations are not a common cause of Parkinson's disease or dementia with Lewy bodies in Caucasian population | RAB39B gene mutations are not a common cause of Parkinson's disease or dementia with Lewy bodies.
Hodges K, Brewer SS, Labbé C, Soto-Ortolaza AI, Walton RL, Strongosky AJ, Uitti RJ, van Gerpen JA, Ertekin-Taner N, Kantarci K, Lowe VJ, Parisi JE, Savica R, Graff-Radford J, Jones DT, Knopman DS, Petersen RC, Murray ME, Graff-Radford NR, Ferman TJ, Dickson DW, Wszolek ZK, Boeve BF, Ross OA, Lorenzo-Betancor O., Free PMC Article | 12/16/2017 |
| RAB39B mutations are not a common cause of early-onset or familial PD in our Taiwanese population. | Lack of RAB39B mutations in early-onset and familial Parkinson's disease in a Taiwanese cohort.
Lin HH, Wu RM, Lin HI, Chen ML, Tai CH, Lin CH. | 10/7/2017 |
| RAB39B mutations are a rare finding in Parkinson disease patients | RAB39B mutations are a rare finding in Parkinson disease patients.
Löchte T, Brüggemann N, Vollstedt EJ, Krause P, Domingo A, Rosales R, Lee LV, Hopfner F, Westenberger A, Kühn A, Klein C, Lohmann K. | 11/5/2016 |
| RAB39B is an essential regulator of vesicular-trafficking in clinically typical Parkinson's disease | The RAB39B p.G192R mutation causes X-linked dominant Parkinson's disease.
Mata IF, Jang Y, Kim CH, Hanna DS, Dorschner MO, Samii A, Agarwal P, Roberts JW, Klepitskaya O, Shprecher DR, Chung KA, Factor SA, Espay AJ, Revilla FJ, Higgins DS, Litvan I, Leverenz JB, Yearout D, Inca-Martinez M, Martinez E, Thompson TR, Cholerton BA, Hu SC, Edwards KL, Kim KS, Zabetian CP., Free PMC Article | 08/27/2016 |
| It plays little or no role in the development of PD in Chinese population. | Genetic analysis of the RAB39B gene in Chinese Han patients with Parkinson's disease.
Yuan L, Deng X, Song Z, Yang Z, Ni B, Chen Y, Deng H. | 05/21/2016 |
| RAB39B selectively regulates GluA2 trafficking to determine synaptic AMPAR composition | The intellectual disability protein RAB39B selectively regulates GluA2 trafficking to determine synaptic AMPAR composition.
Mignogna ML, Giannandrea M, Gurgone A, Fanelli F, Raimondi F, Mapelli L, Bassani S, Fang H, Van Anken E, Alessio M, Passafaro M, Gatti S, Esteban JA, Huganir R, D'Adamo P., Free PMC Article | 08/15/2015 |
| The loss of RAB39B results in dysregulation of alpha-synuclein homeostasis and a spectrum of neuropathological features that implicate RAB39B in the pathogenesis of Parkinson disease and potentially other neurodegenerative disorders. | Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology.
Wilson GR, Sim JC, McLean C, Giannandrea M, Galea CA, Riseley JR, Stephenson SE, Fitzpatrick E, Haas SA, Pope K, Hogan KJ, Gregg RG, Bromhead CJ, Wargowski DS, Lawrence CH, James PA, Churchyard A, Gao Y, Phelan DG, Gillies G, Salce N, Stanford L, Marsh AP, Mignogna ML, Hayflick SJ, Leventer RJ, Delatycki MB, Mellick GD, Kalscheuer VM, D'Adamo P, Bahlo M, Amor DJ, Lockhart PJ., Free PMC Article | 02/28/2015 |
| increased dosage of RAB39B causes a disturbed neuronal development leading to cognitive impairment | Increased dosage of RAB39B affects neuronal development and could explain the cognitive impairment in male patients with distal Xq28 copy number gains.
Vanmarsenille L, Giannandrea M, Fieremans N, Verbeeck J, Belet S, Raynaud M, Vogels A, Männik K, Õunap K, Jacqueline V, Briault S, Van Esch H, D'Adamo P, Froyen G. | 10/11/2014 |
| Data indicate that myosin Va interacted with multiple new Rab subfamilies including Rab6, Rab14 and Rab39B. | Identification and characterization of multiple novel Rab-myosin Va interactions.
Lindsay AJ, Jollivet F, Horgan CP, Khan AR, Raposo G, McCaffrey MW, Goud B., Free PMC Article | 07/5/2014 |
| These results demonstrate developmental and functional neuronal alteration as a consequence of downregulation of RAB39B and emphasize the critical role of vesicular trafficking in the development of neurons and human intellectual abilities. | Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly.
Giannandrea M, Bianchi V, Mignogna ML, Sirri A, Carrabino S, D'Elia E, Vecellio M, Russo S, Cogliati F, Larizza L, Ropers HH, Tzschach A, Kalscheuer V, Oehl-Jaschkowitz B, Skinner C, Schwartz CE, Gecz J, Van Esch H, Raynaud M, Chelly J, de Brouwer AP, Toniolo D, D'Adamo P., Free PMC Article | 03/22/2010 |
| RAB39B was expressed in a variety of human tissues and located in human chromosome Xq28. | Isolation and characterization of a human novel RAB (RAB39B) gene.
Cheng H, Ma Y, Ni X, Jiang M, Guo L, Ying K, Xie Y, Mao Y. | 01/21/2010 |