Publications by authors named "Martin Breuss"

26Publications

Mutations in Spliceosomal Genes PPIL1 and PRP17 Cause Neurodegenerative Pontocerebellar Hypoplasia with Microcephaly.

Authors:
Guoliang Chai Alice Webb Chen Li Danny Antaki Sangmoon Lee Martin W Breuss Nhi Lang Valentina Stanley Paula Anzenberg Xiaoxu Yang Trevor Marshall Patrick Gaffney Klaas J Wierenga Brian Hon-Yin Chung Mandy Ho-Yin Tsang Lynn S Pais Alysia Kern Lovgren Grace E VanNoy Heidi L Rehm Ghayda Mirzaa Eyby Leon Jullianne Diaz Alexander Neumann Arnout P Kalverda Iain W Manfield David A Parry Clare V Logan Colin A Johnson David T Bonthron Elizabeth M A Valleley Mahmoud Y Issa Sherif F Abdel-Ghafar Mohamed S Abdel-Hamid Patricia Jennings Maha S Zaki Eamonn Sheridan Joseph G Gleeson

Neuron 2020 Nov 17. Epub 2020 Nov 17.

Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA; Rady Children's Institute for Genomic Medicine, San Diego, CA 92130, USA. Electronic address:

View Article and Find Full Text PDF
November 2020

A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome.

Authors:
Shereen G Ghosh Marcello Scala Christian Beetz Guy Helman Valentina Stanley Xiaoxu Yang Martin W Breuss Neda Mazaheri Laila Selim Fatemeh Hadipour Lynn Pais Chloe A Stutterd Vasiliki Karageorgou Amber Begtrup Amy Crunk Jane Juusola Rebecca Willaert Leigh A Flore Kelly Kennelly Christopher Spencer Martha Brown Pamela Trapane Anna C E Hurst S Lane Rutledge Dana H Goodloe Marie T McDonald Vandana Shashi Kelly Schoch Hoda Tomoum Raghda Zaitoun Zahra Hadipour Hamid Galehdari Alistair T Pagnamenta Majid Mojarrad Alireza Sedaghat Patrícia Dias Sofia Quintas Atiyeh Eslahi Gholamreza Shariati Peter Bauer Cas Simons Henry Houlden Mahmoud Y Issa Maha S Zaki Reza Maroofian Joseph G Gleeson

Eur J Hum Genet 2020 Sep 8. Epub 2020 Sep 8.

Department of Neurosciences, University of California, San Diego, La Jolla, CA, 92093, USA.

View Article and Find Full Text PDF
September 2020

The Evolution of the Mammalian ABCA6-like Genes: Analysis of Phylogenetic, Expression, and Population Genetic Data Reveals Complex Evolutionary Histories.

Authors:
Martin W Breuss Allen Mamerto Tanya Renner Elizabeth R Waters

Genome Biol Evol 2020 Nov;12(11):2093-2106

Department of Biology and Program in Biological and Medical Informatics, San Diego State University.

View Article and Find Full Text PDF
November 2020

mTOR pathway somatic variants and the molecular pathogenesis of hemimegalencephaly.

Authors:
Camila A B Garcia Simone C S Carvalho Xiaoxu Yang Laurel L Ball Renee D George Kiely N James Valentina Stanley Martin W Breuss Ursula Thomé Marcelo V Santos Fabiano P Saggioro Luciano Neder Serafini Wilson A Silva Joseph G Gleeson Hélio R Machado

Epilepsia Open 2020 Mar 26;5(1):97-106. Epub 2020 Jan 26.

Department of Surgery and Anatomy Ribeirão Preto Medical School University of São Paulo (USP) Ribeirao Preto SP Brazil.

View Article and Find Full Text PDF
March 2020

Autism risk in offspring can be assessed through quantification of male sperm mosaicism.

Authors:
Martin W Breuss Danny Antaki Renee D George Morgan Kleiber Kiely N James Laurel L Ball Oanh Hong Ileena Mitra Xiaoxu Yang Sara A Wirth Jing Gu Camila A B Garcia Madhusudan Gujral William M Brandler Damir Musaev An Nguyen Jennifer McEvoy-Venneri Renatta Knox Evan Sticca Martha Cristina Cancino Botello Javiera Uribe Fenner Maria Cárcel Pérez Maria Arranz Andrea B Moffitt Zihua Wang Amaia Hervás Orrin Devinsky Melissa Gymrek Jonathan Sebat Joseph G Gleeson

Nat Med 2020 01 23;26(1):143-150. Epub 2019 Dec 23.

Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA, USA.

View Article and Find Full Text PDF
January 2020

Recurrent homozygous damaging mutation in , encoding a protein disulfide isomerase, in four families with microlissencephaly.

Authors:
Shereen Georges Ghosh Lu Wang Martin W Breuss Joshua D Green Valentina Stanley Xiaoxu Yang Danica Ross Bryan J Traynor Amal M Alhashem Matloob Azam Laila Selim Laila Bastaki Hanan I Elbastawisy Samia Temtamy Maha Zaki Joseph G Gleeson

J Med Genet 2020 04 5;57(4):274-282. Epub 2019 Oct 5.

Rady Children's Institute for Genomic Medicine, San Diego, California, USA

View Article and Find Full Text PDF
April 2020

Mutations in MAST1 Cause Mega-Corpus-Callosum Syndrome with Cerebellar Hypoplasia and Cortical Malformations.

Authors:
Ratna Tripathy Ines Leca Tessa van Dijk Janneke Weiss Bregje W van Bon Maria Christina Sergaki Thomas Gstrein Martin Breuss Guoling Tian Nadia Bahi-Buisson Alexander R Paciorkowski Alistair T Pagnamenta Andrea Wenninger-Weinzierl Maria Fernanda Martinez-Reza Lukas Landler Stefano Lise Jenny C Taylor Gaetano Terrone Giuseppina Vitiello Ennio Del Giudice Nicola Brunetti-Pierri Alessandra D'Amico Alexandre Reymond Norine Voisin Jonathan A Bernstein Ellyn Farrelly Usha Kini Thomas A Leonard Stéphanie Valence Lydie Burglen Linlea Armstrong Susan M Hiatt Gregory M Cooper Kimberly A Aldinger William B Dobyns Ghayda Mirzaa Tyler Mark Pierson Frank Baas Jamel Chelly Nicholas J Cowan David Anthony Keays

Neuron 2018 12 15;100(6):1354-1368.e5. Epub 2018 Nov 15.

Research Institute of Molecular Pathology, Campus Vienna Biocenter 1, Vienna Biocenter (VBC), Vienna 1030, Austria. Electronic address:

View Article and Find Full Text PDF
December 2018

Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome.

Authors:
Martin W Breuss An Nguyen Qiong Song Thai Nguyen Valentina Stanley Kiely N James Damir Musaev Guoliang Chai Sara A Wirth Paula Anzenberg Renee D George Anide Johansen Shaila Ali Muhammad Zia-Ur-Rehman Tipu Sultan Maha S Zaki Joseph G Gleeson

Am J Hum Genet 2018 08 19;103(2):296-304. Epub 2018 Jul 19.

Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA; Rady Children's Institute for Genomic Medicine, San Diego, CA 92025, USA. Electronic address:

View Article and Find Full Text PDF
August 2018

Biallelic loss of human CTNNA2, encoding αN-catenin, leads to ARP2/3 complex overactivity and disordered cortical neuronal migration.

Authors:
Ashleigh E Schaffer Martin W Breuss Ahmet Okay Caglayan Nouriya Al-Sanaa Hind Y Al-Abdulwahed Hande Kaymakçalan Cahide Yılmaz Maha S Zaki Rasim O Rosti Brett Copeland Seung Tae Baek Damir Musaev Eric C Scott Tawfeg Ben-Omran Ariana Kariminejad Hulya Kayserili Faezeh Mojahedi Majdi Kara Na Cai Jennifer L Silhavy Seham Elsharif Elif Fenercioglu Bruce A Barshop Bulent Kara Rengang Wang Valentina Stanley Kiely N James Rahul Nachnani Aneesha Kalur Hisham Megahed Faruk Incecik Sumita Danda Yasemin Alanay Eissa Faqeih Gia Melikishvili Lobna Mansour Ian Miller Biayna Sukhudyan Jamel Chelly William B Dobyns Kaya Bilguvar Rami Abou Jamra Murat Gunel Joseph G Gleeson

Nat Genet 2018 08 16;50(8):1093-1101. Epub 2018 Jul 16.

Department of Neuroscience, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, San Diego, CA, USA.

View Article and Find Full Text PDF
August 2018

Publisher Correction: Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans.

Authors:
Thomas Gstrein Andrew Edwards Anna Přistoupilová Ines Leca Martin Breuss Sandra Pilat-Carotta Andi H Hansen Ratna Tripathy Anna K Traunbauer Tobias Hochstoeger Gavril Rosoklija Marco Repic Lukas Landler Viktor Stránecký Gerhard Dürnberger Thomas M Keane Johannes Zuber David J Adams Jonathan Flint Tomas Honzik Marta Gut Sergi Beltran Karl Mechtler Elliott Sherr Stanislav Kmoch Ivo Gut David A Keays

Nat Neurosci 2018 Aug;21(8):1139

Institute of Molecular Pathology (IMP), Vienna Biocentre (VBC), Vienna, Austria.

View Article and Find Full Text PDF
August 2018

Mutations in Vps15 perturb neuronal migration in mice and are associated with neurodevelopmental disease in humans.

Authors:
Thomas Gstrein Andrew Edwards Anna Přistoupilová Ines Leca Martin Breuss Sandra Pilat-Carotta Andi H Hansen Ratna Tripathy Anna K Traunbauer Tobias Hochstoeger Gavril Rosoklija Marco Repic Lukas Landler Viktor Stránecký Gerhard Dürnberger Thomas M Keane Johannes Zuber David J Adams Jonathan Flint Tomas Honzik Marta Gut Sergi Beltran Karl Mechtler Elliott Sherr Stanislav Kmoch Ivo Gut David A Keays

Nat Neurosci 2018 02 8;21(2):207-217. Epub 2018 Jan 8.

Institute of Molecular Pathology (IMP), Vienna Biocentre (VBC), Vienna, Austria.

View Article and Find Full Text PDF
February 2018

Tubulins and brain development - The origins of functional specification.

Authors:
Martin W Breuss Ines Leca Thomas Gstrein Andi H Hansen David A Keays

Mol Cell Neurosci 2017 10 27;84:58-67. Epub 2017 Mar 27.

Research Institute of Molecular Pathology, Vienna Biocenter (VBC), Dr Bohr-Gasse 7, Vienna 1030, Austria. Electronic address:

View Article and Find Full Text PDF
October 2017

Brain-specific knockin of the pathogenic Tubb5 E401K allele causes defects in motor coordination and prepulse inhibition.

Authors:
Martin W Breuss Andi H Hansen Lukas Landler David A Keays

Behav Brain Res 2017 04 25;323:47-55. Epub 2017 Jan 25.

IMP, Research Institute of Molecular Pathology, Vienna 1030, Austria. Electronic address:

View Article and Find Full Text PDF
April 2017

Uner Tan syndrome caused by a homozygous TUBB2B mutation affecting microtubule stability.

Authors:
Martin W Breuss Thai Nguyen Anjana Srivatsan Ines Leca Guoling Tian Tanja Fritz Andi H Hansen Damir Musaev Jennifer McEvoy-Venneri Kiely N James Rasim O Rosti Eric Scott Uner Tan Richard D Kolodner Nicholas J Cowan David A Keays Joseph G Gleeson

Hum Mol Genet 2017 01;26(2):258-269

Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA, USA.

View Article and Find Full Text PDF
January 2017

When size matters: CHD8 in autism.

Authors:
Martin W Breuss Joseph G Gleeson

Nat Neurosci 2016 10;19(11):1430-1432

Department of Neurosciences, Howard Hughes Medical Institute, Rady Children's Institute of Genomic Medicine, University of California, San Diego, La Jolla, California, USA.

View Article and Find Full Text PDF
October 2016

Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly.

Authors:
Martin W Breuss Tipu Sultan Kiely N James Rasim O Rosti Eric Scott Damir Musaev Bansri Furia André Reis Heinrich Sticht Mohammed Al-Owain Fowzan S Alkuraya Miriam S Reuter Rami Abou Jamra Christopher R Trotta Joseph G Gleeson

Am J Hum Genet 2016 09 1;99(3):785. Epub 2016 Sep 1.

View Article and Find Full Text PDF
September 2016

Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly.

Authors:
Martin W Breuss Tipu Sultan Kiely N James Rasim O Rosti Eric Scott Damir Musaev Bansri Furia André Reis Heinrich Sticht Mohammed Al-Owain Fowzan S Alkuraya Miriam S Reuter Rami Abou Jamra Christopher R Trotta Joseph G Gleeson

Am J Hum Genet 2016 Jul;99(1):228-35

Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA 92093, USA; Rady Children's Institute for Genomic Medicine, San Diego, CA 92025, USA. Electronic address:

View Article and Find Full Text PDF
July 2016

Mutations in the murine homologue of TUBB5 cause microcephaly by perturbing cell cycle progression and inducing p53-associated apoptosis.

Authors:
Martin Breuss Tanja Fritz Thomas Gstrein Kelvin Chan Lyubov Ushakova Nuo Yu Frederick W Vonberg Barbara Werner Ulrich Elling David A Keays

Development 2016 Apr 22;143(7):1126-33. Epub 2016 Feb 22.

Research Institute of Molecular Pathology (IMP), Vienna Biocenter (VBC), Dr. Bohr-Gasse 7, Vienna 1030, Austria

View Article and Find Full Text PDF
April 2016

Mutations in Either TUBB or MAPRE2 Cause Circumferential Skin Creases Kunze Type.

Authors:
Mala Isrie Martin Breuss Guoling Tian Andi Harley Hansen Francesca Cristofoli Jasmin Morandell Zachari A Kupchinsky Alejandro Sifrim Celia Maria Rodriguez-Rodriguez Elena Porta Dapena Kurston Doonanco Norma Leonard Faten Tinsa Stéphanie Moortgat Hakan Ulucan Erkan Koparir Ender Karaca Nicholas Katsanis Valeria Marton Joris Robert Vermeesch Erica E Davis Nicholas J Cowan David Anthony Keays Hilde Van Esch

Am J Hum Genet 2015 Dec;97(6):790-800

Center for Human Genetics, University Hospitals Leuven, 3000 Leuven, Belgium; Laboratory for Genetics of Cognition, Department of Human Genetics, KU Leuven, 3000 Leuven, Belgium. Electronic address:

View Article and Find Full Text PDF
December 2015

The Expression of Tubb2b Undergoes a Developmental Transition in Murine Cortical Neurons.

Authors:
Martin Breuss Jasmin Morandell Simon Nimpf Thomas Gstrein Mattias Lauwers Tobias Hochstoeger Andreas Braun Kelvin Chan Edmundo R Sánchez Guajardo Lijuan Zhang Marek Suplata Katrin G Heinze Kareem Elsayad David A Keays

J Comp Neurol 2015 Oct 11;523(15):2161-86. Epub 2015 Aug 11.

IMP-Research Institute of Molecular Pathology, Vienna Biocenter (VBC), Vienna, 1030, Austria.

View Article and Find Full Text PDF
October 2015

TUBB5 and its disease-associated mutations influence the terminal differentiation and dendritic spine densities of cerebral cortical neurons.

Authors:
Linh Ngo Matilda Haas Zhengdong Qu Shan Shan Li Jennifer Zenker Kathleen Sue Lyn Teng Jenny Margaret Gunnersen Martin Breuss Mark Habgood David Anthony Keays Julian Ik-Tsen Heng

Hum Mol Genet 2014 Oct 15;23(19):5147-58. Epub 2014 May 15.

EMBL Australia, The Australian Regenerative Medicine Institute, Monash University, Clayton, VIC 3800, Australia,

View Article and Find Full Text PDF
October 2014

Microtubules and neurodevelopmental disease: the movers and the makers.

Authors:
Martin Breuss David A Keays

Adv Exp Med Biol 2014 ;800:75-96

Institute of Molecular Pathology, Dr. Bohr-Gasse 7, 1030, Vienna, Austria.

View Article and Find Full Text PDF
April 2014

High resolution anatomical mapping confirms the absence of a magnetic sense system in the rostral upper beak of pigeons.

Authors:
Christoph Daniel Treiber Marion Salzer Martin Breuss Lyubov Ushakova Mattias Lauwers Nathaniel Edelman David Anthony Keays

Commun Integr Biol 2013 Jul 10;6(4):e24859. Epub 2013 May 10.

Centre for Neural Circuits and Behaviour; University of Oxford; Oxford, UK.

View Article and Find Full Text PDF
July 2013

Mutations in the β-tubulin gene TUBB5 cause microcephaly with structural brain abnormalities.

Authors:
Martin Breuss Julian Ik-Tsen Heng Karine Poirier Guoling Tian Xavier Hubert Jaglin Zhengdong Qu Andreas Braun Thomas Gstrein Linh Ngo Matilda Haas Nadia Bahi-Buisson Marie-Laure Moutard Sandrine Passemard Alain Verloes Pierre Gressens Yunli Xie Kathryn J H Robson Deepa Selvi Rani Kumarasamy Thangaraj Tim Clausen Jamel Chelly Nicholas Justin Cowan David Anthony Keays

Cell Rep 2012 Dec 13;2(6):1554-62. Epub 2012 Dec 13.

Institute of Molecular Pathology, Dr Bohr-Gasse, Vienna 1030, Austria.

View Article and Find Full Text PDF
December 2012

Clusters of iron-rich cells in the upper beak of pigeons are macrophages not magnetosensitive neurons.

Authors:
Christoph Daniel Treiber Marion Claudia Salzer Johannes Riegler Nathaniel Edelman Cristina Sugar Martin Breuss Paul Pichler Herve Cadiou Martin Saunders Mark Lythgoe Jeremy Shaw David Anthony Keays

Nature 2012 Apr 11;484(7394):367-70. Epub 2012 Apr 11.

Institute of Molecular Pathology, Dr Bohr-Gasse, 1030 Vienna, Austria.

View Article and Find Full Text PDF
April 2012

Tuba8 is expressed at low levels in the developing mouse and human brain.

Authors:
Andreas Braun Martin Breuss Marion C Salzer Jonathan Flint Nicholas J Cowan David A Keays

Am J Hum Genet 2010 May;86(5):819-22; author reply 822-3

View Article and Find Full Text PDF
May 2010