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Select item 109283271.

Novel RAB39B Mutation Causes Parkinsonism in Males with Developmental Disorder

Roy Dayan, Shiri Shkedi Rafid, Halen Baker Erdman, Caroline Weill, Avraham Shag, Vardiella Meiner, David Arkadir

Mov Disord Clin Pract. 2024 Mar; 11(3): 306–308. Published online 2024 Jan 31. doi: 10.1002/mdc3.13953

PMCID:: PMC10928327

Article PDF–609K

Select item 80180642.

RAB39B is redistributed in dementia with Lewy bodies and is sequestered within aβ plaques and Lewy bodies

David J. Koss, Odeta Bondarevaite, Sara Adams, Marta Leite, Flaviano Giorgini, Johannes Attems, Tiago F. Outeiro

Brain Pathol. 2021 Jan; 31(1): 120–132. Published online 2020 Aug 25. doi: 10.1111/bpa.12890

PMCID:: PMC8018064

Abstract Article PDF–1.2M

Select item 59548323.

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

Kyndall Hodges, Sheridan S. Brewer, Catherine Labbé, Alexandra I. Soto-Ortolaza, Ronald L. Walton, Audrey J. Strongosky, Ryan J. Uitti, Jay A. van Gerpen, Nilüfer Ertekin-Taner, Kejal Kantarci, Val J. Lowe, Joseph E. Parisi, Rodolfo Savica, Jonathan Graff-Radford, David T. Jones, David S. Knopman, Ronald C. Petersen, Melissa E. Murray, Neill R. Graff-Radford, Tanis J. Ferman, Dennis W. Dickson, Zbigniew K. Wszolek, Bradley F. Boeve, Owen A. Ross, Oswaldo Lorenzo-Betancor

Neurobiol Aging. Author manuscript; available in PMC 2018 May 16.

Published in final edited form as: Neurobiol Aging. 2016 Sep; 45: 107–108. Published online 2016 Mar 24. doi: 10.1016/j.neurobiolaging.2016.03.021

PMCID:: PMC5954832

Abstract Article PDF–283K

Select item 56793294.

Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly

Marc Woodbury-Smith, Eric Deneault, Ryan K. C. Yuen, Susan Walker, Mehdi Zarrei, Giovanna Pellecchia, Jennifer L. Howe, Ny Hoang, Mohammed Uddin, Christian R. Marshall, Christina Chrysler, Ann Thompson, Peter Szatmari, Stephen W. Scherer

Mol Autism. 2017; 8: 59. Published online 2017 Nov 9. doi: 10.1186/s13229-017-0175-3

PMCID:: PMC5679329

Abstract Article PDF–1.2M

Select item 50460835.

RAB39B gene mutations are not linked to familial Parkinson’s disease in China

Ji-feng Kang, Yang Luo, Bei-sha Tang, Chang-min Wan, Yang Yang, Kai Li, Zhen-hua Liu, Qi-ying Sun, Qian Xu, Xin-xiang Yan, Ji-feng Guo

Sci Rep. 2016; 6: 34502. Published online 2016 Oct 3. doi: 10.1038/srep34502

PMCID:: PMC5046083

Abstract Article PDF–214K

Select item 45814686.

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

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

Mol Neurodegener. 2015; 10: 50. Published online 2015 Sep 24. doi: 10.1186/s13024-015-0045-4

PMCID:: PMC4581468

Abstract Article PDF–1.2M

Select item 42599217.

Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with α-Synuclein Pathology

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

Am J Hum Genet. 2014 Dec 4; 95(6): 729–735. doi: 10.1016/j.ajhg.2014.10.015

PMCID:: PMC4259921

Abstract Article PDF–1.2M

Select item 90714008.

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

Maria Lidia Mignogna, Romina Ficarella, Susanna Gelmini, Lucia Marzulli, Emanuela Ponzi, Alessandra Gabellone, Antonia Peschechera, Massino Alessio, Lucia Margari, Mattia Gentile, Patrizia D’Adamo

Hum Mol Genet. 2022 May 1; 31(9): 1389–1406. Published online 2021 Nov 11. doi: 10.1093/hmg/ddab320

PMCID:: PMC9071400

Abstract Article PDF–1.7M

Select item 33528989.

Cystatin A, a Potential Common Link for Mutant Myocilin Causative Glaucoma

K. David Kennedy, S. A. AnithaChristy, LaKisha K. Buie, Teresa Borrás

PLoS One. 2012; 7(5): e36301. Published online 2012 May 15. doi: 10.1371/journal.pone.0036301

PMCID:: PMC3352898

Abstract Article PDF–1.8M

Select item 282018510.

Mutations in the Small GTPase Gene RAB39B Are Responsible for X-linked Mental Retardation Associated with Autism, Epilepsy, and Macrocephaly

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

Am J Hum Genet. 2010 Feb 12; 86(2): 185–195. doi: 10.1016/j.ajhg.2010.01.011

PMCID:: PMC2820185

Abstract Article PDF–1.0M

Select item 438300811.

The intellectual disability protein RAB39B selectively regulates GluA2 trafficking to determine synaptic AMPAR composition

Maria Lidia Mignogna, Maila Giannandrea, Antonia Gurgone, Francesca Fanelli, Francesco Raimondi, Lisa Mapelli, Silvia Bassani, Huaqiang Fang, Eelco Van Anken, Massimo Alessio, Maria Passafaro, Silvia Gatti, José A. Esteban, Richard Huganir, Patrizia D’Adamo

Nat Commun. 2015 Mar 18; 6: 6504. Published online 2015 Mar 18. doi: 10.1038/ncomms7504

PMCID:: PMC4383008

Abstract Article PDF–3.7M

Select item 373882512.

XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing

Amélie Piton, Claire Redin, Jean-Louis Mandel

Am J Hum Genet. 2013 Aug 8; 93(2): 368–383. doi: 10.1016/j.ajhg.2013.06.013

Correction in:: Am J Hum Genet. 2013 Aug 8; 93(2): 406.

PMCID:: PMC3738825

Abstract Article PDF–990K

Select item 501036913.

A C9ORF72/SMCR8-containing complex regulates ULK1 and plays a dual role in autophagy

Mei Yang, Chen Liang, Kunchithapadam Swaminathan, Stephanie Herrlinger, Fan Lai, Ramin Shiekhattar, Jian-Fu Chen

Sci Adv. 2016 Sep; 2(9): e1601167. Published online 2016 Sep 2. doi: 10.1126/sciadv.1601167

PMCID:: PMC5010369

Abstract Article PDF–11M

Select item 381413514.

Identification and characterization of multiple novel Rab–myosin Va interactions

Andrew J. Lindsay, Florence Jollivet, Conor P. Horgan, Amir R. Khan, Graça Raposo, Mary W. McCaffrey, Bruno Goud

Mol Biol Cell. 2013 Nov 1; 24(21): 3420–3434. doi: 10.1091/mbc.E13-05-0236

PMCID:: PMC3814135

Abstract Article PDF–11M

Select item 491053315.

Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin‐2 to induce motor neuron dysfunction and cell death

Chantal Sellier, Maria‐Letizia Campanari, Camille Julie Corbier, Angeline Gaucherot, Isabelle Kolb‐Cheynel, Mustapha Oulad‐Abdelghani, Frank Ruffenach, Adeline Page, Sorana Ciura, Edor Kabashi, Nicolas Charlet‐Berguerand

EMBO J. 2016 Jun 15; 35(12): 1276–1297. Published online 2016 Apr 21. doi: 10.15252/embj.201593350

PMCID:: PMC4910533

Abstract Article PDF–1.5M

Select item 408237216.

The palmitoyl acyltransferase HIP14 shares a high proportion of interactors with huntingtin: implications for a role in the pathogenesis of Huntington's disease

Stefanie L. Butland, Shaun S. Sanders, Mandi E. Schmidt, Sean-Patrick Riechers, David T.S. Lin, Dale D.O. Martin, Kuljeet Vaid, Rona K. Graham, Roshni R. Singaraja, Erich E. Wanker, Elizabeth Conibear, Michael R. Hayden

Hum Mol Genet. 2014 Aug 1; 23(15): 4142–4160. Published online 2014 Apr 4. doi: 10.1093/hmg/ddu137

PMCID:: PMC4082372

Abstract Article PDF–1.7M

Select item 266528617.

The DNA sequence of the human X chromosome

Mark T. Ross, Darren V. Grafham, Alison J. Coffey, Steven Scherer, Kirsten McLay, Donna Muzny, Matthias Platzer, Gareth R. Howell, Christine Burrows, Christine P. Bird, Adam Frankish, Frances L. Lovell, Kevin L. Howe, Jennifer L. Ashurst, Robert S. Fulton, Ralf Sudbrak, Gaiping Wen, Matthew C. Jones, Matthew E. Hurles, T. Daniel Andrews, Carol E. Scott, Stephen Searle, Juliane Ramser, Adam Whittaker, Rebecca Deadman, Nigel P. Carter, Sarah E. Hunt, Rui Chen, Andrew Cree, Preethi Gunaratne, Paul Havlak, Anne Hodgson, Michael L. Metzker, Stephen Richards, Graham Scott, David Steffen, Erica Sodergren, David A. Wheeler, Kim C. Worley, Rachael Ainscough, Kerrie D. Ambrose, M. Ali Ansari-Lari, Swaroop Aradhya, Robert I. S. Ashwell, Anne K. Babbage, Claire L. Bagguley, Andrea Ballabio, Ruby Banerjee, Gary E. Barker, Karen F. Barlow, Ian P. Barrett, Karen N. Bates, David M. Beare, Helen Beasley, Oliver Beasley, Alfred Beck, Graeme Bethel, Karin Blechschmidt, Nicola Brady, Sarah Bray-Allen, Anne M. Bridgeman, Andrew J. Brown, Mary J. Brown, David Bonnin, Elspeth A. Bruford, Christian Buhay, Paula Burch, Deborah Burford, Joanne Burgess, Wayne Burrill, John Burton, Jackie M. Bye, Carol Carder, Laura Carrel, Joseph Chako, Joanne C. Chapman, Dean Chavez, Ellson Chen, Guan Chen, Yuan Chen, Zhijian Chen, Craig Chinault, Alfredo Ciccodicola, Sue Y. Clark, Graham Clarke, Chris M. Clee, Sheila Clegg, Kerstin Clerc-Blankenburg, Karen Clifford, Vicky Cobley, Charlotte G. Cole, Jen S. Conquer, Nicole Corby, Richard E. Connor, Robert David, Joy Davies, Clay Davis, John Davis, Oliver Delgado, Denise DeShazo, Pawandeep Dhami, Yan Ding, Huyen Dinh, Steve Dodsworth, Heather Draper, Shannon Dugan-Rocha, Andrew Dunham, Matthew Dunn, K. James Durbin, Ireena Dutta, Tamsin Eades, Matthew Ellwood, Alexandra Emery-Cohen, Helen Errington, Kathryn L. Evans, Louisa Faulkner, Fiona Francis, John Frankland, Audrey E. Fraser, Petra Galgoczy, James Gilbert, Rachel Gill, Gernot Glöckner, Simon G. Gregory, Susan Gribble, Coline Griffiths, Russell Grocock, Yanghong Gu, Rhian Gwilliam, Cerissa Hamilton, Elizabeth A. Hart, Alicia Hawes, Paul D. Heath, Katja Heitmann, Steffen Hennig, Judith Hernandez, Bernd Hinzmann, Sarah Ho, Michael Hoffs, Phillip J. Howden, Elizabeth J. Huckle, Jennifer Hume, Paul J. Hunt, Adrienne R. Hunt, Judith Isherwood, Leni Jacob, David Johnson, Sally Jones, Pieter J. de Jong, Shirin S. Joseph, Stephen Keenan, Susan Kelly, Joanne K. Kershaw, Ziad Khan, Petra Kioschis, Sven Klages, Andrew J. Knights, Anna Kosiura, Christie Kovar-Smith, Gavin K. Laird, Cordelia Langford, Stephanie Lawlor, Margaret Leversha, Lora Lewis, Wen Liu, Christine Lloyd, David M. Lloyd, Hermela Loulseged, Jane E. Loveland, Jamieson D. Lovell, Ryan Lozado, Jing Lu, Rachael Lyne, Jie Ma, Manjula Maheshwari, Lucy H. Matthews, Jennifer McDowall, Stuart McLaren, Amanda McMurray, Patrick Meidl, Thomas Meitinger, Sarah Milne, George Miner, Shailesh L. Mistry, Margaret Morgan, Sidney Morris, Ines Müller, James C. Mullikin, Ngoc Nguyen, Gabriele Nordsiek, Gerald Nyakatura, Christopher N. O’Dell, Geoffery Okwuonu, Sophie Palmer, Richard Pandian, David Parker, Julia Parrish, Shiran Pasternak, Dina Patel, Alex V. Pearce, Danita M. Pearson, Sarah E. Pelan, Lesette Perez, Keith M. Porter, Yvonne Ramsey, Kathrin Reichwald, Susan Rhodes, Kerry A. Ridler, David Schlessinger, Mary G. Schueler, Harminder K. Sehra, Charles Shaw-Smith, Hua Shen, Elizabeth M. Sheridan, Ratna Shownkeen, Carl D. Skuce, Michelle L. Smith, Elizabeth C. Sotheran, Helen E. Steingruber, Charles A. Steward, Roy Storey, R. Mark Swann, David Swarbreck, Paul E. Tabor, Stefan Taudien, Tineace Taylor, Brian Teague, Karen Thomas, Andrea Thorpe, Kirsten Timms, Alan Tracey, Steve Trevanion, Anthony C. Tromans, Michele d’Urso, Daniel Verduzco, Donna Villasana, Lenee Waldron, Melanie Wall, Qiaoyan Wang, James Warren, Georgina L. Warry, Xuehong Wei, Anthony West, Siobhan L. Whitehead, Mathew N. Whiteley, Jane E. Wilkinson, David L. Willey, Gabrielle Williams, Leanne Williams, Angela Williamson, Helen Williamson, Laurens Wilming, Rebecca L. Woodmansey, Paul W. Wray, Jennifer Yen, Jingkun Zhang, Jianling Zhou, Huda Zoghbi, Sara Zorilla, David Buck, Richard Reinhardt, Annemarie Poustka, André Rosenthal, Hans Lehrach, Alfons Meindl, Patrick J. Minx, LaDeana W. Hillier, Huntington F. Willard, Richard K. Wilson, Robert H. Waterston, Catherine M. Rice, Mark Vaudin, Alan Coulson, David L. Nelson, George Weinstock, John E. Sulston, Richard Durbin, Tim Hubbard, Richard A. Gibbs, Stephan Beck, Jane Rogers, David R. Bentley

Nature. Author manuscript; available in PMC 2009 Apr 5.

Published in final edited form as: Nature. 2005 Mar 17; 434(7031): 325–337. doi: 10.1038/nature03440

PMCID:: PMC2665286

Abstract Article PDF–1.0M

Select item 108373218.

Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing

Jeremy C. Simpson, Ruth Wellenreuther, Annemarie Poustka, Rainer Pepperkok, Stefan Wiemann

EMBO Rep. 2000 Sep 15; 1(3): 287–292. doi: 10.1093/embo-reports/kvd058

PMCID:: PMC1083732

Abstract Article PDF–375K

Select item 134750119.

The LIFEdb database in 2006

Alexander Mehrle, Heiko Rosenfelder, Ingo Schupp, Coral del Val, Dorit Arlt, Florian Hahne, Stephanie Bechtel, Jeremy Simpson, Oliver Hofmann, Winston Hide, Karl-Heinz Glatting, Wolfgang Huber, Rainer Pepperkok, Annemarie Poustka, Stefan Wiemann

Nucleic Acids Res. 2006 Jan 1; 34(Database issue): D415–D418. Published online 2005 Dec 28. doi: 10.1093/nar/gkj139

PMCID:: PMC1347501

Abstract Article PDF–301K

Select item 52893020.

From ORFeome to Biology: A Functional Genomics Pipeline

Stefan Wiemann, Dorit Arlt, Wolfgang Huber, Ruth Wellenreuther, Simone Schleeger, Alexander Mehrle, Stephanie Bechtel, Mamatha Sauermann, Ulrike Korf, Rainer Pepperkok, Holger Sültmann, Annemarie Poustka

Genome Res. 2004 Oct; 14(10b): 2136–2144. doi: 10.1101/gr.2576704

PMCID:: PMC528930

Abstract Article PDF–459K

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