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Patrizia Rizzu
Researcher at German Center for Neurodegenerative Diseases
Publications - 101
Citations - 17635
Patrizia Rizzu is an academic researcher from German Center for Neurodegenerative Diseases. The author has contributed to research in topics: Frontotemporal dementia & Gene. The author has an hindex of 44, co-authored 92 publications receiving 15304 citations. Previous affiliations of Patrizia Rizzu include Erasmus University Medical Center & VU University Amsterdam.
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Journal ArticleDOI
The DJ-1L166P mutant protein associated with early onset Parkinson's disease is unstable and forms higher-order protein complexes
Maria G. Macedo,Burcu Anar,Iraad F. Bronner,Milena Cannella,Ferdinando Squitieri,Vincenzo Bonifati,André T. Hoogeveen,Peter Heutink,Patrizia Rizzu +8 more
TL;DR: Pulse-chase experiments in transfected COS-1 cells and cycloheximide treatment in control and patient lymphoblasts indicated that the mutant protein was rapidly degraded, suggesting that this rapid turnover and the structural changes of DJ-1L166P mutant protein might be crucial in the disease pathogenesis.
Journal ArticleDOI
Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus
Gea Beunders,Els Voorhoeve,Christelle Golzio,Luba M. Pardo,Jill A. Rosenfeld,Michael E. Talkowski,Michael E. Talkowski,Ingrid Simonic,Anath C. Lionel,Anath C. Lionel,Sarah Vergult,Robert E. Pyatt,Robert E. Pyatt,Jiddeke M. van de Kamp,Aggie W. M. Nieuwint,Marjan M. Weiss,Patrizia Rizzu,Lucilla E.N.I. Verwer,Rosalina M. L. van Spaendonk,Yiping Shen,Yiping Shen,Yiping Shen,Bai-Lin Wu,Bai-Lin Wu,Tingting Yu,Tingting Yu,Yongguo Yu,Yongguo Yu,Colby Chiang,James F. Gusella,James F. Gusella,Amelia M. Lindgren,Amelia M. Lindgren,Cynthia C. Morton,Cynthia C. Morton,Cynthia C. Morton,Ellen van Binsbergen,Saskia Bulk,Els Van Rossem,Olivier Vanakker,Ruth Armstrong,Soo Mi Park,Lynn Greenhalgh,Una Maye,Nicholas J. Neill,Kristin M. Abbott,Susan Sell,Roger L. Ladda,Darren Farber,Patricia I. Bader,Tom Cushing,Joanne M. Drautz,Laura Konczal,Patricia L. Nash,Emily de los Reyes,Melissa T. Carter,Elizabeth Hopkins,Christian R. Marshall,Christian R. Marshall,Lucy R. Osborne,Karen W. Gripp,Devon Lamb Thrush,Devon Lamb Thrush,Sayaka Hashimoto,Julie M. Gastier-Foster,Julie M. Gastier-Foster,Caroline Astbury,Caroline Astbury,Bauke Ylstra,Hanne Meijers-Heijboer,Danielle Posthuma,Danielle Posthuma,Danielle Posthuma,Björn Menten,Geert Mortier,Stephen W. Scherer,Stephen W. Scherer,Evan E. Eichler,Santhosh Girirajan,Santhosh Girirajan,Nicholas Katsanis,Alexander J. Groffen,Alexander J. Groffen,Erik A. Sistermans +83 more
TL;DR: The observations demonstrate a causal role of AUTS2 in neurocognitive disorders, establish a hitherto unappreciated syndromic phenotype at this locus, and show how transcriptional complexity can underpin human pathology.
Journal ArticleDOI
DJ-1 colocalizes with tau inclusions: a link between parkinsonism and dementia.
Patrizia Rizzu,Patrizia Rizzu,David A. Hinkle,Victoria Zhukareva,Vincenzo Bonifati,Vincenzo Bonifati,Lies-Anne Severijnen,Daniel Martinez,Rivka Ravid,Wouter Kamphorst,James Eberwine,Virginia M.-Y. Lee,John Q. Trojanowski,Peter Heutink,Peter Heutink +14 more
TL;DR: The view that different neurodegenerative diseases may have similar pathological mechanisms, and that these processes likely include DJ‐1, is extended to include tauopathies.
Journal ArticleDOI
TDP-43 pathology in familial frontotemporal dementia and motor neuron disease without Progranulin mutations
Harro Seelaar,H. Jurgen Schelhaas,Asma Azmani,Benno Küsters,Sonia M. Rosso,Danielle Majoor-Krakauer,Maarten C. de Rijik,Patrizia Rizzu,Ming ten Brummelhuis,Pieter A. van Doorn,Wouter Kamphorst,Rob Willemsen,John C. van Swieten +12 more
TL;DR: There exists considerable clinical variation within families with FTD + MND, which may be determined by other genetic or environmental factors.
Journal ArticleDOI
A Pentanucleotide ATTTC Repeat Insertion in the Non-coding Region of DAB1, Mapping to SCA37, Causes Spinocerebellar Ataxia.
Ana I. Seixas,Joana R. Loureiro,Cristina Costa,Andrés Ordóñez-Ugalde,Hugo Marcelino,Claudia L. Oliveira,José Leal Loureiro,Ashutosh Dhingra,Eva Brandão,Vítor Tedim Cruz,Angela Timóteo,Beatriz Quintáns,Guy A. Rouleau,Patrizia Rizzu,Angel Carracedo,José Bessa,Peter Heutink,Jorge Sequeiros,María Jesús Sobrido,Paula Coutinho,Isabel Silveira +20 more
TL;DR: Together, these results establish an unstable repeat insertion in DAB1 as a cause of cerebellar degeneration and propose this mutation as the molecular basis for SCA37.2.