Literature DB >> 35197585

Mechanism underlying a risk gene in neurodegeneration.

Noa Lipstein.   

Abstract

Entities:  

Keywords:  Neurodegeneration

Mesh:

Year:  2022        PMID: 35197585     DOI: 10.1038/d41586-022-00383-1

Source DB:  PubMed          Journal:  Nature        ISSN: 0028-0836            Impact factor:   69.504


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  11 in total

1.  Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis.

Authors:  Manuela Neumann; Deepak M Sampathu; Linda K Kwong; Adam C Truax; Matthew C Micsenyi; Thomas T Chou; Jennifer Bruce; Theresa Schuck; Murray Grossman; Christopher M Clark; Leo F McCluskey; Bruce L Miller; Eliezer Masliah; Ian R Mackenzie; Howard Feldman; Wolfgang Feiden; Hans A Kretzschmar; John Q Trojanowski; Virginia M-Y Lee
Journal:  Science       Date:  2006-10-06       Impact factor: 47.728

2.  Munc13-1 is essential for fusion competence of glutamatergic synaptic vesicles.

Authors:  I Augustin; C Rosenmund; T C Südhof; N Brose
Journal:  Nature       Date:  1999-07-29       Impact factor: 49.962

3.  Aberrant morphology and residual transmitter release at the Munc13-deficient mouse neuromuscular synapse.

Authors:  Frédérique Varoqueaux; Michèle S Sons; Jaap J Plomp; Nils Brose
Journal:  Mol Cell Biol       Date:  2005-07       Impact factor: 4.272

4.  Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43.

Authors:  Magdalini Polymenidou; Clotilde Lagier-Tourenne; Kasey R Hutt; Stephanie C Huelga; Jacqueline Moran; Tiffany Y Liang; Shuo-Chien Ling; Eveline Sun; Edward Wancewicz; Curt Mazur; Holly Kordasiewicz; Yalda Sedaghat; John Paul Donohue; Lily Shiue; C Frank Bennett; Gene W Yeo; Don W Cleveland
Journal:  Nat Neurosci       Date:  2011-02-27       Impact factor: 24.884

5.  Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis.

Authors:  Michael A van Es; Jan H Veldink; Christiaan G J Saris; Hylke M Blauw; Paul W J van Vught; Anna Birve; Robin Lemmens; Helenius J Schelhaas; Ewout J N Groen; Mark H B Huisman; Anneke J van der Kooi; Marianne de Visser; Caroline Dahlberg; Karol Estrada; Fernando Rivadeneira; Albert Hofman; Machiel J Zwarts; Perry T C van Doormaal; Dan Rujescu; Eric Strengman; Ina Giegling; Pierandrea Muglia; Barbara Tomik; Agnieszka Slowik; Andre G Uitterlinden; Corinna Hendrich; Stefan Waibel; Thomas Meyer; Albert C Ludolph; Jonathan D Glass; Shaun Purcell; Sven Cichon; Markus M Nöthen; H-Erich Wichmann; Stefan Schreiber; Sita H H M Vermeulen; Lambertus A Kiemeney; John H J Wokke; Simon Cronin; Russell L McLaughlin; Orla Hardiman; Katsumi Fumoto; R Jeroen Pasterkamp; Vincent Meininger; Judith Melki; P Nigel Leigh; Christopher E Shaw; John E Landers; Ammar Al-Chalabi; Robert H Brown; Wim Robberecht; Peter M Andersen; Roel A Ophoff; Leonard H van den Berg
Journal:  Nat Genet       Date:  2009-09-06       Impact factor: 38.330

6.  Formation and Maintenance of Functional Spines in the Absence of Presynaptic Glutamate Release.

Authors:  Albrecht Sigler; Won Chan Oh; Cordelia Imig; Bekir Altas; Hiroshi Kawabe; Benjamin H Cooper; Hyung-Bae Kwon; Jeong-Seop Rhee; Nils Brose
Journal:  Neuron       Date:  2017-04-19       Impact factor: 17.173

7.  Munc13-1 is a Ca2+-phospholipid-dependent vesicle priming hub that shapes synaptic short-term plasticity and enables sustained neurotransmission.

Authors:  Noa Lipstein; Shuwen Chang; Kun-Han Lin; Francisco José López-Murcia; Erwin Neher; Holger Taschenberger; Nils Brose
Journal:  Neuron       Date:  2021-10-26       Impact factor: 17.173

8.  TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A.

Authors:  Anna-Leigh Brown; Oscar G Wilkins; Matthew J Keuss; Sarah E Hill; Matteo Zanovello; Weaverly Colleen Lee; Alexander Bampton; Flora C Y Lee; Laura Masino; Yue A Qi; Sam Bryce-Smith; Ariana Gatt; Martina Hallegger; Delphine Fagegaltier; Hemali Phatnani; Jia Newcombe; Emil K Gustavsson; Sahba Seddighi; Joel F Reyes; Steven L Coon; Daniel Ramos; Giampietro Schiavo; Elizabeth M C Fisher; Towfique Raj; Maria Secrier; Tammaryn Lashley; Jernej Ule; Emanuele Buratti; Jack Humphrey; Michael E Ward; Pietro Fratta
Journal:  Nature       Date:  2022-02-23       Impact factor: 69.504

9.  TDP-43 represses cryptic exon inclusion in the FTD-ALS gene UNC13A.

Authors:  X Rosa Ma; Mercedes Prudencio; Yuka Koike; Sarat C Vatsavayai; Garam Kim; Fred Harbinski; Adam Briner; Caitlin M Rodriguez; Caiwei Guo; Tetsuya Akiyama; H Broder Schmidt; Beryl B Cummings; David W Wyatt; Katherine Kurylo; Georgiana Miller; Shila Mekhoubad; Nathan Sallee; Gemechu Mekonnen; Laura Ganser; Jack D Rubien; Karen Jansen-West; Casey N Cook; Sarah Pickles; Björn Oskarsson; Neill R Graff-Radford; Bradley F Boeve; David S Knopman; Ronald C Petersen; Dennis W Dickson; James Shorter; Sua Myong; Eric M Green; William W Seeley; Leonard Petrucelli; Aaron D Gitler
Journal:  Nature       Date:  2022-02-23       Impact factor: 69.504

10.  C9orf72 and UNC13A are shared risk loci for amyotrophic lateral sclerosis and frontotemporal dementia: a genome-wide meta-analysis.

Authors:  Frank P Diekstra; Vivianna M Van Deerlin; John C van Swieten; Ammar Al-Chalabi; Albert C Ludolph; Jochen H Weishaupt; Orla Hardiman; John E Landers; Robert H Brown; Michael A van Es; R Jeroen Pasterkamp; Max Koppers; Peter M Andersen; Karol Estrada; Fernando Rivadeneira; Albert Hofman; André G Uitterlinden; Philip van Damme; Judith Melki; Vincent Meininger; Aleksey Shatunov; Christopher E Shaw; P Nigel Leigh; Pamela J Shaw; Karen E Morrison; Isabella Fogh; Adriano Chiò; Bryan J Traynor; David Czell; Markus Weber; Peter Heutink; Paul I W de Bakker; Vincenzo Silani; Wim Robberecht; Leonard H van den Berg; Jan H Veldink
Journal:  Ann Neurol       Date:  2014-06-27       Impact factor: 10.422

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  1 in total

1.  Cracking the cryptic code in amyotrophic lateral sclerosis and frontotemporal dementia: Towards therapeutic targets and biomarkers.

Authors:  Tetsuya Akiyama; Yuka Koike; Leonard Petrucelli; Aaron D Gitler
Journal:  Clin Transl Med       Date:  2022-05
  1 in total

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