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Authors: Leonard Petrucelli
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Journal Article

ProtPipe: A Multifunctional Data Analysis Pipeline for Proteomics and Peptidomics Open Access

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Ziyi Li and others
Genomics, Proteomics & Bioinformatics, Volume 22, Issue 6, December 2024, qzae083, https://doi.org/10.1093/gpbjnl/qzae083
Published: 22 November 2024
Journal Article

Apilimod dimesylate in C9orf72 amyotrophic lateral sclerosis: a randomized phase 2a clinical trial Free

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Suma Babu and others
Brain, Volume 147, Issue 9, September 2024, Pages 2998–3008, https://doi.org/10.1093/brain/awae109
Published: 12 April 2024
Journal Article

Ribosomal quality control factors inhibit repeat-associated non-AUG translation from GC-rich repeats Open Access

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Yi-Ju Tseng and others
Nucleic Acids Research, Volume 52, Issue 10, 10 June 2024, Pages 5928–5949, https://doi.org/10.1093/nar/gkae137
Published: 27 February 2024
Journal Article

Clinicopathologic features of a novel star-shaped transactive response DNA-binding protein 43 (TDP-43) pathology in the oldest old Free

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Arenn F Carlos and others
Journal of Neuropathology & Experimental Neurology, Volume 83, Issue 1, January 2024, Pages 36–52, https://doi.org/10.1093/jnen/nlad105
Published: 12 December 2023
Journal Article

Shared brain transcriptomic signature in TDP-43 type A FTLD patients with or without GRN mutations Open Access

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Cyril Pottier and others
Brain, Volume 145, Issue 7, July 2022, Pages 2472–2485, https://doi.org/10.1093/brain/awab437
Published: 16 December 2021
Journal Article

Application of a bioinformatic pipeline to RNA-seq data identifies novel virus-like sequence in human blood Open Access

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Marko Melnick and others
G3 Genes|Genomes|Genetics, Volume 11, Issue 9, September 2021, jkab141, https://doi.org/10.1093/g3journal/jkab141
Published: 29 April 2021
Journal Article

Long-read targeted sequencing uncovers clinicopathological associations for C9orf72-linked diseases Open Access

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Mariely DeJesus-Hernandez and others
Brain, Volume 144, Issue 4, April 2021, Pages 1082–1088, https://doi.org/10.1093/brain/awab006
Published: 23 April 2021
Journal Article
EDITOR'S CHOICE

Protein contributions to brain atrophy acceleration in Alzheimer’s disease and primary age-related tauopathy Free

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Keith A Josephs and others
Brain, Volume 143, Issue 11, November 2020, Pages 3463–3476, https://doi.org/10.1093/brain/awaa299
Published: 05 November 2020
Journal Article

C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicity Free

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Youn-Bok Lee and others
Human Molecular Genetics, Volume 30, Issue 3-4, 1 February 2021, Pages 318–320, https://doi.org/10.1093/hmg/ddaa181
Published: 04 September 2020
Journal Article

C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicity Open Access

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Youn-Bok Lee and others
Human Molecular Genetics, Volume 26, Issue 24, 15 December 2017, Pages 4765–4777, https://doi.org/10.1093/hmg/ddx350
Published: 13 September 2017
Journal Article

Repetitive element transcripts are elevated in the brain of C9orf72 ALS/FTLD patients Open Access

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Mercedes Prudencio and others
Human Molecular Genetics, Volume 26, Issue 17, 01 September 2017, Pages 3421–3431, https://doi.org/10.1093/hmg/ddx233
Published: 16 June 2017
Journal Article

TDP-43 mutations causing amyotrophic lateral sclerosis are associated with altered expression of RNA-binding protein hnRNP K and affect the Nrf2 antioxidant pathway Free

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Diane Moujalled and others
Human Molecular Genetics, Volume 26, Issue 9, 1 May 2017, Pages 1732–1746, https://doi.org/10.1093/hmg/ddx093
Published: 09 March 2017
Journal Article

Timing and significance of pathological features in C9orf72 expansion-associated frontotemporal dementia Free

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Sarat C Vatsavayai and others
Brain, Volume 139, Issue 12, December 2016, Pages 3202–3216, https://doi.org/10.1093/brain/aww250
Published: 22 October 2016
Journal Article

TDP-43 functions within a network of hnRNP proteins to inhibit the production of a truncated human SORT1 receptor Free

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Fatemeh Mohagheghi and others
Human Molecular Genetics, Volume 25, Issue 3, 1 February 2016, Pages 534–545, https://doi.org/10.1093/hmg/ddv491
Published: 27 November 2015
Journal Article

Tau deposition drives neuropathological, inflammatory and behavioral abnormalities independently of neuronal loss in a novel mouse model Open Access

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Casey Cook and others
Human Molecular Genetics, Volume 24, Issue 21, 1 November 2015, Pages 6198–6212, https://doi.org/10.1093/hmg/ddv336
Published: 13 August 2015
Journal Article

Targeted manipulation of the sortilin–progranulin axis rescues progranulin haploinsufficiency Open Access

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Wing C. Lee and others
Human Molecular Genetics, Volume 23, Issue 6, 15 March 2014, Pages 1467–1478, https://doi.org/10.1093/hmg/ddt534
Published: 26 October 2013
Journal Article

Acetylation of the KXGS motifs in tau is a critical determinant in modulation of tau aggregation and clearance Open Access

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Casey Cook and others
Human Molecular Genetics, Volume 23, Issue 1, 1 January 2014, Pages 104–116, https://doi.org/10.1093/hmg/ddt402
Published: 19 August 2013
Journal Article

The ALS disease-associated mutant TDP-43 impairs mitochondrial dynamics and function in motor neurons Get access

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Wenzhang Wang and others
Human Molecular Genetics, Volume 22, Issue 23, 1 December 2013, Pages 4706–4719, https://doi.org/10.1093/hmg/ddt319
Published: 04 July 2013
Journal Article

The dual functions of the extreme N-terminus of TDP-43 in regulating its biological activity and inclusion formation Open Access

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Yong-Jie Zhang and others
Human Molecular Genetics, Volume 22, Issue 15, 1 August 2013, Pages 3112–3122, https://doi.org/10.1093/hmg/ddt166
Published: 10 April 2013
Journal Article

Loss of HDAC6, a novel CHIP substrate, alleviates abnormal tau accumulation Open Access

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Casey Cook and others
Human Molecular Genetics, Volume 21, Issue 13, 1 July 2012, Pages 2936–2945, https://doi.org/10.1093/hmg/dds125
Published: 05 April 2012