Publications:

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VCP-related myopathy: a case series and a review of literature.

Acta Myologica : Myopathies And Cardiomyopathies : Official Journal Of The Mediterranean Society Of Myology

Iannibelli, Eliana E; Gibertini, Sara S; Cheli, Marta M; Blasevich, Flavia F; Cavaliere, Andrea A; Riolo, Giorgia G; Ruggieri, Alessandra A; Maggi, Lorenzo L

Publication Date: 2023

Variant appearance in text: VCP: A439S

PubMed Link: 37091525

Variant Present in the following documents:

• Main text
• am-2023-01-2.pdf

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Multisystem Proteinopathy Due to VCP Mutations: A Review of Clinical Heterogeneity and Genetic Diagnosis.

Genes

Pfeffer, Gerald G; Lee, Grace G; Pontifex, Carly S CS; Fanganiello, Roberto D RD; Peck, Allison A; Weihl, Conrad C CC; Kimonis, Virginia V

Publication Date: 2022-05-27

Variant appearance in text: VCP: 1315G>T

PubMed Link: 35741724

Variant Present in the following documents:

• Main text
• genes-13-00963.pdf

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Valosin Containing Protein (VCP): A Multistep Regulator of Autophagy.

International Journal Of Molecular Sciences

Ferrari, Veronica V; Cristofani, Riccardo R; Tedesco, Barbara B; Crippa, Valeria V; Chierichetti, Marta M; Casarotto, Elena E; Cozzi, Marta M; Mina, Francesco F; Piccolella, Margherita M; Galbiati, Mariarita M; Rusmini, Paola P; Poletti, Angelo A

Publication Date: 2022-02-09

Variant appearance in text: VCP: A439S

PubMed Link: 35216053

Variant Present in the following documents:

• ijms-23-01939.pdf

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Spatially interacting phosphorylation sites and mutations in cancer.

Nature Communications

Huang, Kuan-Lin KL; Scott, Adam D AD; Zhou, Daniel Cui DC; Wang, Liang-Bo LB; Weerasinghe, Amila A; Elmas, Abdulkadir A; Liu, Ruiyang R; Wu, Yige Y; Wendl, Michael C MC; Wyczalkowski, Matthew A MA; Baral, Jessika J; Sengupta, Sohini S; Lai, Chin-Wen CW; Ruggles, Kelly K; Payne, Samuel H SH; Raphael, Benjamin B; Fenyö, David D; Chen, Ken K; Mills, Gordon G; Ding, Li L

Publication Date: 2021-04-19

Variant appearance in text: VCP: A439S

PubMed Link: 33875650

Variant Present in the following documents:

• 41467_2021_22481_MOESM4_ESM.xlsx, sheet 1
• 41467_2021_22481_MOESM4_ESM.xlsx, sheet 6

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: VCP: A439S

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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

Calcified Tissue International

Ralston, Stuart H SH; Taylor, J Paul JP

Publication Date: 2019-05

Variant appearance in text: VCP: A439S

PubMed Link: 30756140

Variant Present in the following documents:

• Main text

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Mutations in the Human AAA+ Chaperone p97 and Related Diseases.

Frontiers In Molecular Biosciences

Tang, Wai Kwan WK; Xia, Di D

Publication Date: 2016

Variant appearance in text: VCP: A439S

PubMed Link: 27990419

Variant Present in the following documents:

• Main text
• fmolb-03-00079.pdf

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215th ENMC International Workshop VCP-related multi-system proteinopathy (IBMPFD) 13-15 November 2015, Heemskerk, The Netherlands.

Neuromuscular Disorders : Nmd

Evangelista, Teresinha T; Weihl, Conrad C CC; Kimonis, Virginia V; Lochmüller, Hanns H; ,

Publication Date: 2016-08

Variant appearance in text: VCP: A439S

PubMed Link: 27312024

Variant Present in the following documents:

• Main text

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A network of RNA and protein interactions in Fronto Temporal Dementia.

Frontiers In Molecular Neuroscience

Fontana, Francesca F; Siva, Kavitha K; Denti, Michela A MA

Publication Date: 2015

Variant appearance in text: IBMPFD: A439S

PubMed Link: 25852467

Variant Present in the following documents:

• Main text
• fnmol-08-00009.pdf

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Psychiatric Presentation of Frontotemporal Dementia Associated with Inclusion Body Myopathy due to the VCP Mutation (R155H) in a French Family.

Case Reports In Neurology

Jacquin, Agnès A; Rouaud, Olivier O; Soichot, Pierre P; Bejot, Yannick Y; Dygai-Cochet, Inna I; Sarazin, Marie M; Stojkovic, Tania T; Lemesle-Martin, Martine M; Giroud, Maurice M; Moreau, Thibault T

Publication Date: 2013

Variant appearance in text: VCP: A439S

PubMed Link: 24348398

Variant Present in the following documents:

• Main text

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Cdc48: a swiss army knife of cell biology.

Journal Of Amino Acids

Baek, Guem Hee GH; Cheng, Haili H; Choe, Vitnary V; Bao, Xin X; Shao, Jia J; Luo, Shiwen S; Rao, Hai H

Publication Date: 2013

Variant appearance in text: IBMPFD: A439S

PubMed Link: 24167726

Variant Present in the following documents:

• Main text
• JAA2013-183421.pdf

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Genotype-phenotype studies of VCP-associated inclusion body myopathy with Paget disease of bone and/or frontotemporal dementia.

Clinical Genetics

Mehta, S G SG; Khare, M M; Ramani, R R; Watts, G D J GD; Simon, M M; Osann, K E KE; Donkervoort, S S; Dec, E E; Nalbandian, A A; Platt, J J; Pasquali, M M; Wang, A A; Mozaffar, T T; Smith, C D CD; Kimonis, V E VE

Publication Date: 2013-05

Variant appearance in text: VCP: A439S

PubMed Link: 22909335

Variant Present in the following documents:

• Main text

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Structural and functional deviations in disease-associated p97 mutants.

Journal Of Structural Biology

Tang, Wai Kwan WK; Xia, Di D

Publication Date: 2012-08

Variant appearance in text: IBMPFD: A439S

PubMed Link: 22579784

Variant Present in the following documents:

• Main text

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A novel exon 2 I27V VCP variant is associated with dissimilar clinical syndromes.

Journal Of Neurology

Rohrer, Jonathan D JD; Warren, Jason D JD; Reiman, David D; Uphill, James J; Beck, Jonathan J; Collinge, John J; Rossor, Martin N MN; Isaacs, Adrian M AM; Mead, Simon S

Publication Date: 2011-08

Variant appearance in text: VCP: A439S

PubMed Link: 21387114

Variant Present in the following documents:

• Main text

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Inclusion body myopathy, Paget's disease of the bone and fronto-temporal dementia: a disorder of autophagy.

Human Molecular Genetics

Ju, Jeong-Sun JS; Weihl, Conrad C CC

Publication Date: 2010-04-15

Variant appearance in text: IBMPFD: A439S

PubMed Link: 20410287

Variant Present in the following documents:

• Main text

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