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Select item 78427681.

Generation, Analyzing and in-vivo Drug Treatment of Drosophila Models with IBMPFD

Ting Zhang, Bruce A. Hay, Ming Guo

Bio Protoc. 2020 May 20; 10(10): e3621. Published online 2020 May 20. doi: 10.21769/BioProtoc.3621

PMCID:: PMC7842768

Abstract Article PDF–575K

Select item 74318782.

Increased Neurofilament Light Chain and YKL-40 CSF Levels in One Japanese IBMPFD Patient With VCP R155C Mutation: A Clinical Case Report With CSF Biomarker Analyses

Masaki Ikeda, Takeo Kuwabara, Eriko Takai, Hiroo Kasahara, Minori Furuta, Akiko Sekine, Kouki Makioka, Tsuneo Yamazaki, Yukio Fujita, Kazuaki Nagashima, Tetsuya Higuchi, Yoshito Tsushima, Yoshio Ikeda

Front Neurol. 2020; 11: 757. Published online 2020 Aug 11. doi: 10.3389/fneur.2020.00757

PMCID:: PMC7431878

Abstract Article PDF–832K

Select item 67277593.

VCP/p97 controls signals of the ERK1/2 pathway transmitted via the Shoc2 scaffolding complex: novel insights into IBMPFD pathology

HyeIn Jang, Eun Ryoung Jang, Patricia G. Wilson, Daniel Anderson, Emilia Galperin

Mol Biol Cell. 2019 Jul 1; 30(14): 1655–1663. doi: 10.1091/mbc.E19-03-0144

PMCID:: PMC6727759

Abstract Article PDF–1.3M

Select item 51158604.

Correction: IBMPFD Disease-Causing Mutant VCP/p97 Proteins Are Targets of Autophagic-Lysosomal Degradation

The PLOS ONE Staff

PLoS One. 2016; 11(11): e0167192. Published online 2016 Nov 18. doi: 10.1371/journal.pone.0167192

Corrects:: PLoS One. 2016; 11(10): e0164864.

PMCID:: PMC5115860

Correction PDF–280K

Select item 50745635.

IBMPFD Disease-Causing Mutant VCP/p97 Proteins Are Targets of Autophagic-Lysosomal Degradation

Oznur Bayraktar, Ozlem Oral, Nur Mehpare Kocaturk, Yunus Akkoc, Karin Eberhart, Ali Kosar, Devrim Gozuacik

PLoS One. 2016; 11(10): e0164864. Published online 2016 Oct 21. doi: 10.1371/journal.pone.0164864

Correction in:: PLoS One. 2016; 11(11): e0167192.

PMCID:: PMC5074563

Abstract Article PDF–2.7M

Select item 37307856.

Neuronal-Specific Overexpression of a Mutant Valosin-Containing Protein Associated with IBMPFD Promotes Aberrant Ubiquitin and TDP-43 Accumulation and Cognitive Dysfunction in Transgenic Mice

Carlos J. Rodriguez-Ortiz, Hitomi Hoshino, David Cheng, Liqun Liu-Yescevitz, Mathew Blurton-Jones, Benjamin Wolozin, Frank M. LaFerla, Masashi Kitazawa

Am J Pathol. 2013 Aug; 183(2): 504–515. doi: 10.1016/j.ajpath.2013.04.014

PMCID:: PMC3730785

Abstract Article PDF–2.0M

Select item 29290107.

VCP/p97 is essential for maturation of ubiquitin-containing autophagosomes and this function is impaired by mutations that cause IBMPFD

Emilie Tresse, Florian A. Salomons, Jouni Vesa, Laura C. Bott, Virginia Kimonis, Tso-Pang Yao, Nico P. Dantuma, J. Paul Taylor

Autophagy. Author manuscript; available in PMC 2010 Aug 27.

Published in final edited form as: Autophagy. 2010 Feb; 6(2): 217–227. Published online 2010 Feb 22. doi: 10.4161/auto.6.2.11014

PMCID:: PMC2929010

Abstract Article PDF–3.2M

Select item 42974548.

Immunoreactivity of valosin-containing protein in sporadic amyotrophic lateral sclerosis and in a case of its novel mutant

Takashi Ayaki, Hidefumi Ito, Hiroko Fukushima, Takeshi Inoue, Takayuki Kondo, Akito Ikemoto, Takeshi Asano, Akemi Shodai, Takuji Fujita, Satoshi Fukui, Hiroyuki Morino, Satoshi Nakano, Hirofumi Kusaka, Hirofumi Yamashita, Masafumi Ihara, Riki Matsumoto, Jun Kawamata, Makoto Urushitani, Hideshi Kawakami, Ryosuke Takahashi

Acta Neuropathol Commun. 2014; 2: 172. Published online 2014 Dec 10. doi: 10.1186/s40478-014-0172-0

PMCID:: PMC4297454

Abstract Article PDF–3.4M

Select item 105885209.

Pathogenic variants of Valosin-containing protein induce lysosomal damage and transcriptional activation of autophagy regulators in neuronal cells

Veronica Ferrari, Riccardo Cristofani, Maria E. Cicardi, Barbara Tedesco, Valeria Crippa, Marta Chierichetti, Elena Casarotto, Marta Cozzi, Francesco Mina, Mariarita Galbiati, Margherita Piccolella, Serena Carra, Thomas Vaccari, Angele Nalbandian, Virginia Kimonis, Tyler R. Fortuna, Udai B. Pandey, Maria C. Gagliani, Katia Cortese, Paola Rusmini, Angelo Poletti

Neuropathol Appl Neurobiol. Author manuscript; available in PMC 2023 Oct 20.

Published in final edited form as: Neuropathol Appl Neurobiol. 2022 Aug; 48(5): e12818. Published online 2022 May 15. doi: 10.1111/nan.12818

PMCID:: PMC10588520

Abstract Article PDF–3.3M

Select item 1033727810.

Novel variants, muscle imaging, and myopathological changes in Chinese patients with VCP‐related multisystem proteinopathy

Yalan Wan, Qi Wang, Yiming Zheng, Meng Yu, Zhiying Xie, Chen Ling, Lingchao Meng, Jiaxi Yu, Yilei Zheng, Yikang Wang, Wenhao Zhang, Chang Liu, Yawen Zhao, Yun Yuan, Jianwen Deng, Qiang Gang, Zhaoxia Wang

Mol Genet Genomic Med. 2023 Jul; 11(7): e2176. Published online 2023 Mar 31. doi: 10.1002/mgg3.2176

PMCID:: PMC10337278

Abstract Article PDF–5.1M

Select item 1004834311.

Novel Variants in the VCP Gene Causing Multisystem Proteinopathy 1

Rod Carlo Agram Columbres, Yue Chin, Sanjana Pratti, Colin Quinn, Luis F. Gonzalez-Cuyar, Michael Weiss, Fabiola Quintero-Rivera, Virginia Kimonis

Genes (Basel) 2023 Mar; 14(3): 676. Published online 2023 Mar 8. doi: 10.3390/genes14030676

PMCID:: PMC10048343

Abstract Article PDF–2.1M

Select item 928786212.

A clinicopathologic study of malignancy in VCP-associated multisystem proteinopathy

Alyaa Shmara, Mari Perez-Rosendahl, Kady Murphy, Ashley Kwon, Charles Smith, Virginia Kimonis

Orphanet J Rare Dis. 2022; 17: 272. Published online 2022 Jul 15. doi: 10.1186/s13023-022-02403-9

PMCID:: PMC9287862

Abstract Article PDF–2.3M

Select item 922340913.

CRISPR/Cas9-Mediated Constitutive Loss of VCP (Valosin-Containing Protein) Impairs Proteostasis and Leads to Defective Striated Muscle Structure and Function In Vivo

Philipp Voisard, Federica Diofano, Amelia A. Glazier, Wolfgang Rottbauer, Steffen Just

Int J Mol Sci. 2022 Jun; 23(12): 6722. Published online 2022 Jun 16. doi: 10.3390/ijms23126722

PMCID:: PMC9223409

Abstract Article PDF–9.6M

Select item 916923014.

The Cure VCP Scientific Conference 2021: Molecular and clinical insights into neurodegeneration and myopathy linked to multisystem proteinopathy-1 (MSP-1)

Michelle A. Johnson, Jacob A. Klickstein, Richa Khanna, Yunzi Gou, Cure VCP Disease Research Consortium, Malavika Raman

Neurobiol Dis. Author manuscript; available in PMC 2022 Jul 1.

Published in final edited form as: Neurobiol Dis. 2022 Jul; 169: 105722. Published online 2022 Apr 8. doi: 10.1016/j.nbd.2022.105722

PMCID:: PMC9169230

Abstract Article PDF–376K

Select item 834798215.

Structural and Functional Analysis of Disease-Linked p97 ATPase Mutant Complexes

Purbasha Nandi, Shan Li, Rod Carlo A. Columbres, Feng Wang, Dewight R. Williams, Yu-Ping Poh, Tsui-Fen Chou, Po-Lin Chiu

Int J Mol Sci. 2021 Aug; 22(15): 8079. Published online 2021 Jul 28. doi: 10.3390/ijms22158079

PMCID:: PMC8347982

Abstract Article PDF–2.9M

Select item 767080016.

Genetic counselling and testing for inherited dementia: single-centre evaluation of the consensus Italian DIAfN protocol

Anna Mega, Samantha Galluzzi, Cristian Bonvicini, Silvia Fostinelli, Massimo Gennarelli, Cristina Geroldi, Orazio Zanetti, Luisa Benussi, Emilio Di Maria, Giovanni B. Frisoni

Alzheimers Res Ther. 2020; 12: 152. Published online 2020 Nov 17. doi: 10.1186/s13195-020-00720-4

PMCID:: PMC7670800

Abstract Article PDF–1.0M

Select item 715465517.

Crystal structure of the catalytic D2 domain of the AAA+ ATPase p97 reveals a putative helical split‐washer‐type mechanism for substrate unfolding

Lasse Stach, Rhodri Marc Morgan, Linda Makhlouf, Alice Douangamath, Frank von Delft, Xiaodong Zhang, Paul S. Freemont

FEBS Lett. 2020 Mar; 594(5): 933–943. Published online 2019 Nov 22. doi: 10.1002/1873-3468.13667

PMCID:: PMC7154655

Abstract Article PDF–3.6M

Select item 659172318.

Analysis of hnRNPA1, A2/B1, and A3 genes in patients with amyotrophic lateral sclerosis

Daniela Calini, Lucia Corrado, Roberto Del Bo, Stella Gagliardi, Viviana Pensato, Federico Verde, Stefania Corti, Letizia Mazzini, Pamela Milani, Barbara Castellotti, Cinzia Bertolin, Gianni Sorarù, Cristina Cereda, Giacomo P. Comi, Sandra D’Alfonso, Cinzia Gellera, Nicola Ticozzi, John E. Landers, Antonia Ratti, Vincenzo Silani, The SLAGEN Consortium

Neurobiol Aging. Author manuscript; available in PMC 2019 Jun 25.

Published in final edited form as: Neurobiol Aging. 2013 Nov; 34(11): 2695.e11–2695.e12. Published online 2013 Jul 2. doi: 10.1016/j.neurobiolaging.2013.05.025

PMCID:: PMC6591723

Abstract Article PDF–40K

Select item 652681519.

VCP maintains lysosomal homeostasis and TFEB activity in differentiated skeletal muscle

Khalid Arhzaouy, Chrisovalantis Papadopoulos, Nina Schulze, Sara K. Pittman, Hemmo Meyer, Conrad C. Weihl

Autophagy. 2019; 15(6): 1082–1099. Published online 2019 Jan 29. doi: 10.1080/15548627.2019.1569933

PMCID:: PMC6526815

Abstract Article PDF–4.5M

Select item 649018220.

A cross-sectional analysis of clinical evaluation in 35 individuals with mutations of the valosin-containing protein gene

Jake Plewa, Abhilasha Surampalli, Marie Wencel, Merit Milad, Sandra Donkervoort, Vincent J. Caiozzo, Namita Goyal, Tahseen Mozaffar, Virginia Kimonis

Neuromuscul Disord. Author manuscript; available in PMC 2019 Sep 1.

Published in final edited form as: Neuromuscul Disord. 2018 Sep; 28(9): 778–786. Published online 2018 Jun 27. doi: 10.1016/j.nmd.2018.06.007

PMCID:: PMC6490182

Abstract Article PDF–567K

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