Publications by authors named "Lachlan Jolly"

25Publications

Usp9X Controls Ankyrin-Repeat Domain Protein Homeostasis during Dendritic Spine Development.

Neuron 2020 02 5;105(3):506-521.e7. Epub 2019 Dec 5.

Department of Physiology, Northwestern University Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA; Department of Psychiatry and Behavioral Sciences, Northwestern University Feinberg School of Medicine, Northwestern University, Chicago, IL 60611, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2019.11.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7007386PMC
February 2020

Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling.

Authors:
Brett V Johnson Raman Kumar Sabrina Oishi Suzy Alexander Maria Kasherman Michelle Sanchez Vega Atma Ivancevic Alison Gardner Deepti Domingo Mark Corbett Euan Parnell Sehyoun Yoon Tracey Oh Matthew Lines Henrietta Lefroy Usha Kini Margot Van Allen Sabine Grønborg Sandra Mercier Sébastien Küry Stéphane Bézieau Laurent Pasquier Martine Raynaud Alexandra Afenjar Thierry Billette de Villemeur Boris Keren Julie Désir Lionel Van Maldergem Martina Marangoni Nicola Dikow David A Koolen Peter M VanHasselt Marjan Weiss Petra Zwijnenburg Joaquim Sa Claudia Falcao Reis Carlos López-Otín Olaya Santiago-Fernández Alberto Fernández-Jaén Anita Rauch Katharina Steindl Pascal Joset Amy Goldstein Suneeta Madan-Khetarpal Elena Infante Elaine Zackai Carey Mcdougall Vinodh Narayanan Keri Ramsey Saadet Mercimek-Andrews Loren Pena Vandana Shashi Kelly Schoch Jennifer A Sullivan Filippo Pinto E Vairo Pavel N Pichurin Sarah A Ewing Sarah S Barnett Eric W Klee M Scott Perry Mary Kay Koenig Catherine E Keegan Jane L Schuette Stephanie Asher Yezmin Perilla-Young Laurie D Smith Jill A Rosenfeld Elizabeth Bhoj Paige Kaplan Dong Li Renske Oegema Ellen van Binsbergen Bert van der Zwaag Marie Falkenberg Smeland Ioana Cutcutache Matthew Page Martin Armstrong Angela E Lin Marcie A Steeves Nicolette den Hollander Mariëtte J V Hoffer Margot R F Reijnders Serwet Demirdas Daniel C Koboldt Dennis Bartholomew Theresa Mihalic Mosher Scott E Hickey Christine Shieh Pedro A Sanchez-Lara John M Graham Kamer Tezcan G B Schaefer Noelle R Danylchuk Alexander Asamoah Kelly E Jackson Naomi Yachelevich Margaret Au Luis A Pérez-Jurado Tjitske Kleefstra Peter Penzes Stephen A Wood Thomas Burne Tyler Mark Pierson Michael Piper Jozef Gécz Lachlan A Jolly

Biol Psychiatry 2020 01 29;87(2):100-112. Epub 2019 Jun 29.

University of Adelaide and Robinson Research Institute, Adelaide, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.biopsych.2019.05.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6925349PMC
January 2020

Robust imaging and gene delivery to study human lymphoblastoid cell lines.

J Hum Genet 2018 Sep 20;63(9):945-955. Epub 2018 Jun 20.

School of Medicine, The University of Adelaide, Adelaide, 5005, Australia.

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http://dx.doi.org/10.1038/s10038-018-0483-2DOI Listing
September 2018

PCDH19 regulation of neural progenitor cell differentiation suggests asynchrony of neurogenesis as a mechanism contributing to PCDH19 Girls Clustering Epilepsy.

Neurobiol Dis 2018 08 12;116:106-119. Epub 2018 May 12.

School of Medicine, The University of Adelaide, Adelaide 5005, Australia; Robinson Research Institute, The University of Adelaide, Adelaide 5006, Australia; School of Biological Sciences, The University of Adelaide, Adelaide 5005, Australia; South Australian Health and Medical Research Institute, Adelaide 5000, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2018.05.004DOI Listing
August 2018

Loss of Usp9x disrupts cell adhesion, and components of the Wnt and Notch signaling pathways in neural progenitors.

Sci Rep 2017 08 14;7(1):8109. Epub 2017 Aug 14.

Eskitis Institute for Drug Discovery, Griffith University, Nathan Brisbane 4111, Queensland, Australia.

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http://dx.doi.org/10.1038/s41598-017-05451-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5556043PMC
August 2017

THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability.

Am J Hum Genet 2015 Aug 9;97(2):302-10. Epub 2015 Jul 9.

School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, SA 5000, Australia; School of Molecular and Biomedical Sciences, University of Adelaide, Adelaide, SA 5005, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2015.05.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4573269PMC
August 2015

Seizures are regulated by ubiquitin-specific peptidase 9 X-linked (USP9X), a de-ubiquitinase.

PLoS Genet 2015 Mar 12;11(3):e1005022. Epub 2015 Mar 12.

Department of Pediatrics, The University of Iowa, Iowa City, Iowa, United States of America; Interdisciplinary Program in Genetics, The University of Iowa, Iowa City, Iowa, United States of America; Roy J. and Lucille A. Carver College of Medicine, The University of Iowa, Iowa City, Iowa, United States of America; Interdisciplinary Graduate Program in Molecular and Cellular Biology, The University of Iowa, Iowa City, Iowa, United States of America; Interdisciplinary Graduate Program in Neuroscience, The University of Iowa, Iowa City, Iowa, United States of America.

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http://dx.doi.org/10.1371/journal.pgen.1005022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4357451PMC
March 2015

HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain.

Hum Mol Genet 2015 Jun 3;24(12):3335-47. Epub 2015 Mar 3.

School of Paediatrics and Reproductive Health, Robinson Research Institute and School of Molecular and Biomedical Sciences, University of Adelaide, Adelaide 5000, Australia,

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http://dx.doi.org/10.1093/hmg/ddv083DOI Listing
June 2015

La FAM fatale: USP9X in development and disease.

Cell Mol Life Sci 2015 Jun 12;72(11):2075-89. Epub 2015 Feb 12.

The Eskitis Institute for Drug Discovery, Griffith University, Brisbane, QLD, Australia.

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http://dx.doi.org/10.1007/s00018-015-1851-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4427618PMC
June 2015

Homozygous mutation of STXBP5L explains an autosomal recessive infantile-onset neurodegenerative disorder.

Hum Mol Genet 2015 Apr 11;24(7):2000-10. Epub 2014 Dec 11.

Women's and Children's Health Research Institute, North Adelaide and Discipline of Medicine, School of Paediatrics and Reproductive Health, Robinson Research Institute and, School of Molecular and Biomedical Sciences, The University of Adelaide, Adelaide, SA, Australia,

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http://hmg.oxfordjournals.org/content/early/2015/01/07/hmg.d
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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/ddu614
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http://dx.doi.org/10.1093/hmg/ddu614DOI Listing
April 2015

Mutations in USP9X are associated with X-linked intellectual disability and disrupt neuronal cell migration and growth.

Am J Hum Genet 2014 Mar;94(3):470-8

School of Paediatrics and Reproductive Health, University of Adelaide, Adelaide, SA 5005, Australia; Robinson Institute, University of Adelaide, Adelaide, SA 5005, Australia. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2014.02.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3951929PMC
March 2014

The UPF3B gene, implicated in intellectual disability, autism, ADHD and childhood onset schizophrenia regulates neural progenitor cell behaviour and neuronal outgrowth.

Hum Mol Genet 2013 Dec 2;22(23):4673-87. Epub 2013 Jul 2.

Department of Genetic and Molecular Pathology, SA Pathology, North Adelaide 5006, Australia.

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http://dx.doi.org/10.1093/hmg/ddt315DOI Listing
December 2013

Loss of FMR2 further emphasizes the link between deregulation of immediate early response genes FOS and JUN and intellectual disability.

Hum Mol Genet 2013 Aug 5;22(15):2984-91. Epub 2013 Apr 5.

Institut de Pharmacologie Moléculaire et Cellulaire, CNRS UMR 7275, 660 Route des Lucioles, F-06560 Valbonne, France.

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https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/
Publisher Site
http://dx.doi.org/10.1093/hmg/ddt155DOI Listing
August 2013

USP9X enhances the polarity and self-renewal of embryonic stem cell-derived neural progenitors.

Mol Biol Cell 2009 Apr 28;20(7):2015-29. Epub 2009 Jan 28.

Child Health Research Institute, North Adelaide, South Australia 5006, Australia.

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http://dx.doi.org/10.1091/mbc.e08-06-0596DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2663926PMC
April 2009