Literature DB >> 26208960

Multisystem proteinopathy: intersecting genetics in muscle, bone, and brain degeneration.

J Paul Taylor1.   

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Year:  2015        PMID： 26208960     DOI： 10.1212/WNL.0000000000001862

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  45 in total

Review 1.  Toward precision medicine in amyotrophic lateral sclerosis.

Authors:  Zhang-Yu Zou; Chang-Yun Liu; Chun-Hui Che; Hua-Pin Huang
Journal:  Ann Transl Med       Date:  2016-01

2.  Loss of C9ORF72 impairs autophagy and synergizes with polyQ Ataxin-2 to induce motor neuron dysfunction and cell death.

Authors:  Chantal Sellier; Maria-Letizia Campanari; Camille Julie Corbier; Angeline Gaucherot; Isabelle Kolb-Cheynel; Mustapha Oulad-Abdelghani; Frank Ruffenach; Adeline Page; Sorana Ciura; Edor Kabashi; Nicolas Charlet-Berguerand
Journal:  EMBO J       Date:  2016-04-21       Impact factor: 11.598

3.  ULK1 and ULK2 Regulate Stress Granule Disassembly Through Phosphorylation and Activation of VCP/p97.

Authors:  Bo Wang; Brian A Maxwell; Joung Hyuck Joo; Youngdae Gwon; James Messing; Ashutosh Mishra; Timothy I Shaw; Amber L Ward; Honghu Quan; Sadie Miki Sakurada; Shondra M Pruett-Miller; Tulio Bertorini; Peter Vogel; Hong Joo Kim; Junmin Peng; J Paul Taylor; Mondira Kundu
Journal:  Mol Cell       Date:  2019-04-09       Impact factor: 17.970

Review 4.  Neuroimaging in genetic frontotemporal dementia and amyotrophic lateral sclerosis.

Authors:  Suvi Häkkinen; Stephanie A Chu; Suzee E Lee
Journal:  Neurobiol Dis       Date:  2020-09-02       Impact factor: 5.996

5.  In Situ Peroxidase Labeling and Mass-Spectrometry Connects Alpha-Synuclein Directly to Endocytic Trafficking and mRNA Metabolism in Neurons.

Authors:  Chee Yeun Chung; Vikram Khurana; Song Yi; Nidhi Sahni; Ken H Loh; Pavan K Auluck; Valeriya Baru; Namrata D Udeshi; Yelena Freyzon; Steven A Carr; David E Hill; Marc Vidal; Alice Y Ting; Susan Lindquist
Journal:  Cell Syst       Date:  2017-01-25       Impact factor: 10.304

6.  VCP maintains lysosomal homeostasis and TFEB activity in differentiated skeletal muscle.

Authors:  Khalid Arhzaouy; Chrisovalantis Papadopoulos; Nina Schulze; Sara K Pittman; Hemmo Meyer; Conrad C Weihl
Journal:  Autophagy       Date:  2019-01-29       Impact factor: 16.016

Review 7.  Rare Inherited forms of Paget's Disease and Related Syndromes.

Authors:  Stuart H Ralston; J Paul Taylor
Journal:  Calcif Tissue Int       Date:  2019-02-13       Impact factor: 4.333

8.  Genetic interaction of hnRNPA2B1 and DNAJB6 in a Drosophila model of multisystem proteinopathy.

Authors:  Songqing Li; Peipei Zhang; Brian D Freibaum; Nam Chul Kim; Regina-Maria Kolaitis; Amandine Molliex; Anderson P Kanagaraj; Ichiro Yabe; Mishie Tanino; Shinya Tanaka; Hidenao Sasaki; Eric D Ross; J Paul Taylor; Hong Joo Kim
Journal:  Hum Mol Genet       Date:  2016-01-06       Impact factor: 6.150

9.  TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations.

Authors:  YouJin Lee; Per Harald Jonson; Jaakko Sarparanta; Johanna Palmio; Mohona Sarkar; Anna Vihola; Anni Evilä; Tiina Suominen; Sini Penttilä; Marco Savarese; Mridul Johari; Marie-Christine Minot; David Hilton-Jones; Paul Maddison; Patrick Chinnery; Jens Reimann; Cornelia Kornblum; Torsten Kraya; Stephan Zierz; Carolyn Sue; Hans Goebel; Asim Azfer; Stuart H Ralston; Peter Hackman; Robert C Bucelli; J Paul Taylor; Conrad C Weihl; Bjarne Udd
Journal:  J Clin Invest       Date:  2018-02-19       Impact factor: 14.808

10.  Structural Basis of p97 Inhibition by the Site-Selective Anticancer Compound CB-5083.

Authors:  Wai Kwan Tang; Taivan Odzorig; Whitney Jin; Di Xia
Journal:  Mol Pharmacol       Date:  2018-12-27       Impact factor: 4.436
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