H
Holger Hummerich
Researcher at University College London
Publications - 40
Citations - 3293
Holger Hummerich is an academic researcher from University College London. The author has contributed to research in topics: PRNP & Kuru. The author has an hindex of 21, co-authored 40 publications receiving 3011 citations. Previous affiliations of Holger Hummerich include Imperial College London & UCL Institute of Neurology.
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Journal ArticleDOI
Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia
Gaia Skibinski,Nicholas Parkinson,Jeremy M Brown,Lisa Chakrabarti,Lisa Chakrabarti,Sarah L Lloyd,Holger Hummerich,Jørgen E. Nielsen,Jørgen E. Nielsen,John R. Hodges,Maria Grazia Spillantini,Tove Thusgaard,Sebastian Brandner,Arne Brun,Martin N. Rossor,Anders Gade,Anders Gade,Peter Johannsen,Sven Asger Sørensen,Susanne Gydesen,Elizabeth M. C. Fisher,John Collinge +21 more
TL;DR: A mutation in CHMP2B, encoding a component of the endosomal ESCRTIII complex, is identified and it is shown that it results in aberrant mRNA splicing in tissue samples from affected members of this family.
Journal ArticleDOI
Mutations in Dynein Link Motor Neuron Degeneration to Defects in Retrograde Transport
Majid Hafezparast,Rainer Klocke,Christiana Ruhrberg,Andreas Marquardt,Azlina Ahmad-Annuar,Samantha Bowen,Giovanna Lalli,Abi S. Witherden,Holger Hummerich,Sharon E. Nicholson,P. Jeffrey Morgan,Ravi Oozageer,John V. Priestley,Sharon Averill,V.R. King,Simon T. Ball,Jo Peters,Takashi Toda,Ayumu Yamamoto,Yasushi Hiraoka,Martin Augustin,Dirk Korthaus,Sigrid Wattler,Philipp Wabnitz,Carmen Dickneite,Stefan Lampel,Florian Boehme,Gisela Peraus,Andreas Popp,Martina Rudelius,Juergen Schlegel,Helmut Fuchs,Martin Hrabé de Angelis,Giampietro Schiavo,David T. Shima,Andreas Russ,Gabriele Stumm,Joanne E. Martin,Elizabeth M. C. Fisher +38 more
TL;DR: It is shown that missense point mutations in the cytoplasmic dynein heavy chain result in progressive motor neuron degeneration in heterozygous mice, and in homozygotes this is accompanied by the formation of Lewy-like inclusion bodies, thus resembling key features of human pathology.
Journal ArticleDOI
Genetic analysis of the cytoplasmic dynein subunit families
K. Kevin Pfister,Paresh Shah,Holger Hummerich,Andreas Russ,James P Cotton,Azlina Ahmad Annuar,Stephen M. King,Elizabeth M. C. Fisher +7 more
TL;DR: This analysis documents evolutionary relationships among the dynein subunits of mammals and other model organisms, and sheds new light on the role of this diverse group of proteins, highlighting the existence of two cytoplasmic dyneIn complexes with distinct cellular roles.
Journal ArticleDOI
Activation of Nuclear Factor-kappa B signalling promotes cellular senescence
Emilie Rovillain,Louise Mansfield,Catia Caetano,Mónica Álvarez-Fernández,Otavia L. Caballero,René H. Medema,Holger Hummerich,Parmjit S. Jat +7 more
TL;DR: Genetic complementation and genome-wide expression profiling with genetic complementation were combined to identify genes that are differentially expressed when conditionally immortalised human fibroblasts undergo senescence upon activation of the p16-pRB and p53-p21 tumour suppressor pathways.
Journal ArticleDOI
A Novel Protective Prion Protein Variant that Colocalizes with Kuru Exposure
Simon Mead,Jerome Whitfield,Mark Poulter,Paresh Shah,James Uphill,Tracy Campbell,Huda Al-Dujaily,Holger Hummerich,Jon Beck,Charles A. Mein,Claudio J. Verzilli,John C. Whittaker,Michael P. Alpers,John Collinge +13 more
TL;DR: Variants at codons 127 and 129 of PRNP demonstrate the population genetic response to an epidemic of prion disease and represent a powerful episode of recent selection in humans.