Publications by authors named "Oscar Bello"

23Publications

Synaptotagmin-1 membrane binding is driven by the C2B domain and assisted cooperatively by the C2A domain.

Authors:
Clémence Gruget Oscar Bello Jeff Coleman Shyam S Krishnakumar Eric Perez James E Rothman Frederic Pincet Stephen H Donaldson

Sci Rep 2020 10 22;10(1):18011. Epub 2020 Oct 22.

Laboratoire de Physique de L'Ecole Normale Supérieure, ENS, Université PSL, CNRS, Sorbonne Université, Université de Paris, 75005, Paris, France.

View Article and Find Full Text PDF
October 2020

Early-infantile onset epilepsy and developmental delay caused by bi-allelic GAD1 variants.

Authors:
Caroline Neuray Reza Maroofian Marcello Scala Tipu Sultan Gurpur S Pai Majid Mojarrad Heba El Khashab Leigh deHoll Wyatt Yue Hessa S Alsaif Maria N Zanetti Oscar Bello Richard Person Atieh Eslahi Zaynab Khazaei Masoumeh H Feizabadi Stephanie Efthymiou Hala T El-Bassyouni Doaa R Soliman Selahattin Tekes Leyla Ozer Volkan Baltaci Suliman Khan Christian Beetz Khalda S Amr Vincenzo Salpietro Yalda Jamshidi Fowzan S Alkuraya Henry Houlden

Brain 2020 08;143(8):2388-2397

UCL Queen Square Institute of Neurology, University College London, London, UK.

View Article and Find Full Text PDF
August 2020

Synaptotagmin 1 oligomers clamp and regulate different modes of neurotransmitter release.

Authors:
Erica Tagliatti Oscar D Bello Philipe R F Mendonça Dimitrios Kotzadimitriou Elizabeth Nicholson Jeff Coleman Yulia Timofeeva James E Rothman Shyam S Krishnakumar Kirill E Volynski

Proc Natl Acad Sci U S A 2020 02 3;117(7):3819-3827. Epub 2020 Feb 3.

Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, University College London, WC1N 3BG London, United Kingdom;

View Article and Find Full Text PDF
February 2020

HGF induces protective effects in α-naphthylisothiocyanate-induced intrahepatic cholestasis by counteracting oxidative stress.

Authors:
Soraya Salas-Silva Arturo Simoni-Nieves María Valeria Razori Jocelyn López-Ramirez Jonatan Barrera-Chimal Roberto Lazzarini Oscar Bello Verónica Souza Roxana U Miranda-Labra María Concepción Gutiérrez-Ruiz Luis Enrique Gomez-Quiroz Marcelo G Roma Leticia Bucio-Ortiz

Biochem Pharmacol 2020 04 16;174:113812. Epub 2020 Jan 16.

Departmento de Ciencias de la Salud, Universidad Autónoma Metropolitana, Unidad Iztapalapa, Ciudad de México, Mexico; Unidad de Medicina Traslacional, Instituto Nacional de Cardiología Ignacio Chávez, Ciudad de México, Mexico. Electronic address:

View Article and Find Full Text PDF
April 2020

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders.

Authors:
Vincenzo Salpietro Christine L Dixon Hui Guo Oscar D Bello Jana Vandrovcova Stephanie Efthymiou Reza Maroofian Gali Heimer Lydie Burglen Stephanie Valence Erin Torti Moritz Hacke Julia Rankin Huma Tariq Estelle Colin Vincent Procaccio Pasquale Striano Kshitij Mankad Andreas Lieb Sharon Chen Laura Pisani Conceicao Bettencourt Roope Männikkö Andreea Manole Alfredo Brusco Enrico Grosso Giovanni Battista Ferrero Judith Armstrong-Moron Sophie Gueden Omer Bar-Yosef Michal Tzadok Kristin G Monaghan Teresa Santiago-Sim Richard E Person Megan T Cho Rebecca Willaert Yongjin Yoo Jong-Hee Chae Yingting Quan Huidan Wu Tianyun Wang Raphael A Bernier Kun Xia Alyssa Blesson Mahim Jain Mohammad M Motazacker Bregje Jaeger Amy L Schneider Katja Boysen Alison M Muir Candace T Myers Ralitza H Gavrilova Lauren Gunderson Laura Schultz-Rogers Eric W Klee David Dyment Matthew Osmond Mara Parellada Cloe Llorente Javier Gonzalez-Peñas Angel Carracedo Arie Van Haeringen Claudia Ruivenkamp Caroline Nava Delphine Heron Rosaria Nardello Michele Iacomino Carlo Minetti Aldo Skabar Antonella Fabretto Miquel Raspall-Chaure Michael Chez Anne Tsai Emily Fassi Marwan Shinawi John N Constantino Rita De Zorzi Sara Fortuna Fernando Kok Boris Keren Dominique Bonneau Murim Choi Bruria Benzeev Federico Zara Heather C Mefford Ingrid E Scheffer Jill Clayton-Smith Alfons Macaya James E Rothman Evan E Eichler Dimitri M Kullmann Henry Houlden

Nat Commun 2019 07 12;10(1):3094. Epub 2019 Jul 12.

Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.

View Article and Find Full Text PDF
July 2019

PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.

Authors:
Viorica Chelban Matthew P Wilson Jodi Warman Chardon Jana Vandrovcova M Natalia Zanetti Eleni Zamba-Papanicolaou Stephanie Efthymiou Simon Pope Maria R Conte Giancarlo Abis Yo-Tsen Liu Eloise Tribollet Nourelhoda A Haridy Juan A Botía Mina Ryten Paschalis Nicolaou Anna Minaidou Kyproula Christodoulou Kristin D Kernohan Alison Eaton Matthew Osmond Yoko Ito Pierre Bourque James E C Jepson Oscar Bello Fion Bremner Carla Cordivari Mary M Reilly Martha Foiani Amanda Heslegrave Henrik Zetterberg Simon J R Heales Nicholas W Wood James E Rothman Kym M Boycott Philippa B Mills Peter T Clayton Henry Houlden

Ann Neurol 2019 08 1;86(2):225-240. Epub 2019 Jul 1.

Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.

View Article and Find Full Text PDF
August 2019

Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment.

Authors:
Vincenzo Salpietro Nancy T Malintan Isabel Llano-Rivas Christine G Spaeth Stephanie Efthymiou Pasquale Striano Jana Vandrovcova Maria C Cutrupi Roberto Chimenz Emanuele David Gabriella Di Rosa Anna Marce-Grau Miquel Raspall-Chaure Elena Martin-Hernandez Federico Zara Carlo Minetti Oscar D Bello Rita De Zorzi Sara Fortuna Andrew Dauber Mariam Alkhawaja Tipu Sultan Kshitij Mankad Antonio Vitobello Quentin Thomas Frederic Tran Mau-Them Laurence Faivre Francisco Martinez-Azorin Carlos E Prada Alfons Macaya Dimitri M Kullmann James E Rothman Shyam S Krishnakumar Henry Houlden

Am J Hum Genet 2019 04 28;104(4):721-730. Epub 2019 Mar 28.

Department of Molecular Neuroscience, UCL Institute of Neurology, University College London, London WC1N 3BG, UK. Electronic address:

View Article and Find Full Text PDF
April 2019

Synaptotagmin oligomerization is essential for calcium control of regulated exocytosis.

Authors:
Oscar D Bello Ouardane Jouannot Arunima Chaudhuri Ekaterina Stroeva Jeff Coleman Kirill E Volynski James E Rothman Shyam S Krishnakumar

Proc Natl Acad Sci U S A 2018 08 23;115(32):E7624-E7631. Epub 2018 Jul 23.

Department of Cell Biology, Yale University School of Medicine, New Haven, CT 06520;

View Article and Find Full Text PDF
August 2018

Rearrangements under confinement lead to increased binding energy of Synaptotagmin-1 with anionic membranes in Mg and Ca.

Authors:
Clémence Gruget Jeff Coleman Oscar Bello Shyam S Krishnakumar Eric Perez James E Rothman Frederic Pincet Stephen H Donaldson

FEBS Lett 2018 05 10;592(9):1497-1506. Epub 2018 Apr 10.

Département de Physique, Ecole Normale Supérieure, PSL Research University, CNRS, Paris, France.

View Article and Find Full Text PDF
May 2018

A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function.

Authors:
Vincenzo Salpietro Stephanie Efthymiou Andreea Manole Bhawana Maurya Sarah Wiethoff Balasubramaniem Ashokkumar Maria Concetta Cutrupi Valeria Dipasquale Sara Manti Juan A Botia Mina Ryten Jana Vandrovcova Oscar D Bello Conceicao Bettencourt Kshitij Mankad Ashim Mukherjee Mousumi Mutsuddi Henry Houlden

Hum Mutat 2018 02 27;39(2):187-192. Epub 2017 Nov 27.

Department of Molecular Neuroscience, Institute of Neurology, University College London, London, UK.

View Article and Find Full Text PDF
February 2018

Clinical, pathological and functional characterization of riboflavin-responsive neuropathy.

Authors:
Andreea Manole Zane Jaunmuktane Iain Hargreaves Marthe H R Ludtmann Vincenzo Salpietro Oscar D Bello Simon Pope Amelie Pandraud Alejandro Horga Renata S Scalco Abi Li Balasubramaniem Ashokkumar Charles M Lourenço Simon Heales Rita Horvath Patrick F Chinnery Camilo Toro Andrew B Singleton Thomas S Jacques Andrey Y Abramov Francesco Muntoni Michael G Hanna Mary M Reilly Tamas Revesz Dimitri M Kullmann James E C Jepson Henry Houlden

Brain 2017 11;140(11):2820-2837

Department of Molecular Neuroscience and Neurogenetics Laboratory, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK.

View Article and Find Full Text PDF
November 2017

Circular oligomerization is an intrinsic property of synaptotagmin.

Authors:
Jing Wang Feng Li Oscar D Bello Charles Vaughn Sindelar Frédéric Pincet Shyam S Krishnakumar James E Rothman

Elife 2017 08 29;6. Epub 2017 Aug 29.

Departments of Cell Biology, Yale University School of Medicine, New Haven, United States.

View Article and Find Full Text PDF
August 2017

Mutations in NKX6-2 Cause Progressive Spastic Ataxia and Hypomyelination.

Authors:
Viorica Chelban Nisha Patel Jana Vandrovcova M Natalia Zanetti David S Lynch Mina Ryten Juan A Botía Oscar Bello Eloise Tribollet Stephanie Efthymiou Indran Davagnanam Fahad A Bashiri Nicholas W Wood James E Rothman Fowzan S Alkuraya Henry Houlden

Am J Hum Genet 2017 Jun;100(6):969-977

Department of Molecular Neuroscience, University College London, London WC1N 3BG, UK; Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery, London WC1N 3BG, UK.

View Article and Find Full Text PDF
June 2017

Dilation of fusion pores by crowding of SNARE proteins.

Authors:
Zhenyong Wu Oscar D Bello Sathish Thiyagarajan Sarah Marie Auclair Wensi Vennekate Shyam S Krishnakumar Ben O'Shaughnessy Erdem Karatekin

Elife 2017 03 27;6. Epub 2017 Mar 27.

Department of Cellular and Molecular Physiology, School of Medicine, Yale University, New Haven, United States.

View Article and Find Full Text PDF
March 2017

Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome.

Authors:
Vincenzo Salpietro Weichun Lin Andrea Delle Vedove Markus Storbeck Yun Liu Stephanie Efthymiou Andreea Manole Sarah Wiethoff Qiaohong Ye Anand Saggar Kenneth McElreavey Shyam S Krishnakumar Matthew Pitt Oscar D Bello James E Rothman Lina Basel-Vanagaite Monika Weisz Hubshman Sharon Aharoni Adnan Y Manzur Brunhilde Wirth Henry Houlden

Ann Neurol 2017 04 29;81(4):597-603. Epub 2017 Mar 29.

Department of Molecular Neuroscience, Institute of Neurology, University College London Institute of Neurology, London, United Kingdom.

View Article and Find Full Text PDF
April 2017

Kv1.1 channelopathy abolishes presynaptic spike width modulation by subthreshold somatic depolarization.

Authors:
Umesh Vivekananda Pavel Novak Oscar D Bello Yuri E Korchev Shyam S Krishnakumar Kirill E Volynski Dimitri M Kullmann

Proc Natl Acad Sci U S A 2017 02 13;114(9):2395-2400. Epub 2017 Feb 13.

Institute of Neurology, University College London, London WC1N 3BG, United Kingdom;

View Article and Find Full Text PDF
February 2017

Ring-like oligomers of Synaptotagmins and related C2 domain proteins.

Authors:
Maria N Zanetti Oscar D Bello Jing Wang Jeff Coleman Yiying Cai Charles V Sindelar James E Rothman Shyam S Krishnakumar

Elife 2016 07 19;5. Epub 2016 Jul 19.

Department of Cell Biology, Yale School of Medicine, New Haven, United States.

View Article and Find Full Text PDF
July 2016

Rab3A, a possible marker of cortical granules, participates in cortical granule exocytosis in mouse eggs.

Authors:
Oscar Daniel Bello Andrea Isabel Cappa Matilde de Paola María Natalia Zanetti Mitsunori Fukuda Rafael A Fissore Luis S Mayorga Marcela A Michaut

Exp Cell Res 2016 09 14;347(1):42-51. Epub 2016 Jul 14.

Instituto de Histología y Embriología, CONICET - Universidad Nacional de Cuyo, Av. Libertador 80, 5500 Mendoza, Argentina; Facultad de Ciencias Exactas y Naturales, Universidad Nacional de Cuyo, Argentina. Electronic address:

View Article and Find Full Text PDF
September 2016

Nanodisc-cell fusion: control of fusion pore nucleation and lifetimes by SNARE protein transmembrane domains.

Authors:
Zhenyong Wu Sarah M Auclair Oscar Bello Wensi Vennekate Natasha R Dudzinski Shyam S Krishnakumar Erdem Karatekin

Sci Rep 2016 06 6;6:27287. Epub 2016 Jun 6.

Department of Cellular and Molecular Physiology, School of Medicine, Yale University, 333 Cedar Street, New Haven, CT, 06520, USA.

View Article and Find Full Text PDF
June 2016

Using ApoE Nanolipoprotein Particles To Analyze SNARE-Induced Fusion Pores.

Authors:
Oscar D Bello Sarah M Auclair James E Rothman Shyam S Krishnakumar

Langmuir 2016 Mar 18;32(12):3015-23. Epub 2016 Mar 18.

Department of Cell Biology, Yale University School of Medicine , New Haven, Connecticut 06510, United States.

View Article and Find Full Text PDF
March 2016