| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Guimei Yu, Yunpeng Bai, Zhong-Yin Zhan. Valosin-Containing Protein (VCP)/p97 Oligomerization. Sub-cellular biochemistry. vol 104. 2024-07-04. PMID:38963497. |
pathogenic mutations frequently found at the interface between the ntd domain and d1 atpase domain have been shown to cause malfunction of vcp, leading to degenerative disorders including the inclusion body myopathy associated with paget disease of bone and frontotemporal dementia (ibmpfd), amyotrophic lateral sclerosis (als), and cancers. |
2024-07-04 |
2024-07-10 |
Not clear |
| Jessica M Phan, Benjamin C Creekmore, Aivi T Nguyen, Darya D Bershadskaya, Nabil F Darwich, Carolyn N Mann, Edward B Le. VCP activator reverses nuclear proteostasis defects and enhances TDP-43 aggregate clearance in multisystem proteinopathy models. The Journal of clinical investigation. 2024-05-24. PMID:38787785. |
pathogenic variants in vcp cause multisystem proteinopathy (msp), a disease characterized by multiple clinical phenotypes including inclusion body myopathy, paget's disease of the bone, and frontotemporal dementia (ftd). |
2024-05-24 |
2024-05-27 |
Not clear |
| Rod Carlo Agram Columbres, Vu Luu, Minh Nguyen, Virginia Kimoni. Cross-sectional study of patients with VCP multisystem proteinopathy 1 using dual-energy x-ray absorptiometry. Muscle & nerve. 2024-03-29. PMID:38551101. |
vcp multisystem proteinopathy 1 (msp1), encompassing inclusion body myopathy (ibm), paget's disease of bone (pdb) and frontotemporal dementia (ftd) (ibmpfd), features progressive muscle weakness, fatty infiltration, and disorganized bone structure in pagetic bones. |
2024-03-29 |
2024-03-31 |
Not clear |
| Rod Carlo Agram Columbres, Sarosh Din, Liliane Gibbs, Virginia Kimoni. Bone scan findings of Paget's disease of bone in patients with VCP Multisystem Proteinopathy 1. Scientific reports. vol 14. issue 1. 2024-03-12. PMID:38467645. |
multisystem proteinopathy 1 (msp1) disease is a rare genetic disorder caused by mutations in the valosin-containing protein (vcp) gene with clinical features of inclusion body myopathy (ibm), frontotemporal dementia (ftd), and paget's disease of bone (pdb). |
2024-03-12 |
2024-03-14 |
Not clear |
| Madeline Halseth, Ryan Mahoney, Joyce Hsiou, Harrison N Jones, Virginia Kimoni. Remote respiratory resistance exercise training improves respiratory function in individuals with VCP multisystem proteinopathy. Neuromuscular disorders : NMD. vol 34. 2023-12-29. PMID:38157654. |
valosin-containing protein (vcp) disease is an autosomal dominant multisystem proteinopathy associated with hereditary inclusion body myopathy, paget disease of bone, and frontotemporal dementia. |
2023-12-29 |
2024-01-05 |
Not clear |
| Victoria Boock, Bhaskar Roy, Gerald Pfeffer, Virginia Kimoni. Therapeutic developments for valosin-containing protein mediated multisystem proteinopathy. Current opinion in neurology. vol 36. issue 5. 2023-09-07. PMID:37678339. |
missense mutations in valosin-containing protein (vcp) can lead to a multisystem proteinopathy 1 (msp1) with any combination of limb-girdle distribution inclusion body myopathy (ibm) (present in about 90% of cases), paget's disease of bone, and frontotemporal dementia (ibmpfd). |
2023-09-07 |
2023-10-07 |
Not clear |
| b' Deborah Leccese, Gabriele Rosario Rodolico, Martina Sperti, Denise Cassandrini, Marco Bartolini, Assunta Ingannato, Benedetta Nacmias, Laura Bracco, Alessandro Malandrini, Filippo Maria Santorelli, Valentina Bessi, Sabrina Mat\\xc3\\xa. Sex influences clinical phenotype in valosin-containing protein mutations: A case family report and systematic literature review. Clinical neurology and neurosurgery. vol 232. 2023-07-13. PMID:37441929.' |
mutations in the valosin-containing protein (vcp) gene cause autosomal dominant multisystem proteinopathy 1 (msp1), characterized by a variable combination of inclusion body myopathy (ibm), paget's disease of bone (pdb), and frontotemporal dementia (ftd). |
2023-07-13 |
2023-08-14 |
Not clear |
| Yoon Seob Kim, Don Gueu Park, Min Seung Kim, Jung Han Yoo. Deep brain stimulation in Parkinson's disease with valosin-containing protein gene mutation. European journal of neurology. 2023-05-12. PMID:37170789. |
mutations in the gene encoding valosin-containing protein (vcp) are related to myriad medical conditions, including familial amyotrophic lateral sclerosis, inclusion body myopathy, and frontotemporal dementia. |
2023-05-12 |
2023-08-14 |
Not clear |
| Eliana Iannibelli, Sara Gibertini, Marta Cheli, Flavia Blasevich, Andrea Cavaliere, Giorgia Riolo, Alessandra Ruggieri, Lorenzo Magg. VCP-related myopathy: a case series and a review of literature. Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology. vol 42. issue 1. 2023-04-24. PMID:37091525. |
frontotemporal dementia (ftd), inclusion body myopathy, and paget's disease of the bone (pdb) are all caused by dominant missense mutations in the vcp gene, which interfere with these mechanisms and cause a multisystem proteinopathy. |
2023-04-24 |
2023-08-14 |
Not clear |
| Alyaa Shmara, Liliane Gibbs, Ryan Patrick Mahoney, Kyle Hurth, Vanessa S Goodwill, Alicia Cuber, Regina Im, Donald P Pizzo, Jerry Brown, Christina Laukaitis, Shalini Mahajan, Virginia Kimoni. Prevalence of Frontotemporal Dementia in Females of 5 Hispanic Families With R159H VCP Multisystem Proteinopathy. Neurology. Genetics. vol 9. issue 1. 2023-01-16. PMID:36644447. |
prevalence of frontotemporal dementia in females of 5 hispanic families with r159h vcp multisystem proteinopathy. |
2023-01-16 |
2023-08-14 |
Not clear |
| Ryota Kobayashi, Hiroya Naruse, Shinobu Kawakatsu, Chifumi Iseki, Yuya Suzuki, Shingo Koyama, Daichi Morioka, Hiroyuki Ishiura, Jun Mitsui, Yasuyuki Ohta, Shoji Tsuji, Tatsushi Toda, Koichi Otan. Valosin-containing protein Asp395Gly mutation in a patient with frontotemporal dementia: a case report. BMC neurology. vol 22. issue 1. 2022-11-04. PMID:36329418. |
variants in the valosin-containing protein (vcp) gene were identified as one of the causes for inclusion body myopathy associated with paget disease of the bone and frontotemporal dementia (ftd). |
2022-11-04 |
2023-08-14 |
Not clear |
| Alyaa Shmara, Mari Perez-Rosendahl, Kady Murphy, Ashley Kwon, Charles Smith, Virginia Kimoni. A clinicopathologic study of malignancy in VCP-associated multisystem proteinopathy. Orphanet journal of rare diseases. vol 17. issue 1. 2022-07-15. PMID:35841038. |
vcp-associated inclusion body myopathy with paget disease of bone and frontotemporal dementia, also termed vcp disease and multisystem proteinopathy (msp 1), is an autosomal dominant disorder caused by monoallelic variants in the vcp gene on human chromosome 9. |
2022-07-15 |
2023-08-14 |
human |
| Philipp Voisard, Federica Diofano, Amelia A Glazier, Wolfgang Rottbauer, Steffen Jus. CRISPR/Cas9-Mediated Constitutive Loss of VCP (Valosin-Containing Protein) Impairs Proteostasis and Leads to Defective Striated Muscle Structure and Function In Vivo. International journal of molecular sciences. vol 23. issue 12. 2022-06-24. PMID:35743185. |
mutations in vcp lead to (cardio-)myopathy and neurodegenerative diseases such as inclusion body myopathy with paget's disease of the bone and frontotemporal dementia (ibmpfd) or amyotrophic lateral sclerosis (als). |
2022-06-24 |
2023-08-14 |
Not clear |
| Stephanie Moo. Regulation of Stress Granule Dynamicity by Valosin-Containing Protein. FASEB journal : official publication of the Federation of American Societies for Experimental Biology. vol 36 Suppl 1. 2022-05-13. PMID:35553491. |
overexpression of vcp alleles associated with amyotrophic lateral sclerosis and frontotemporal dementia caused increased mrna localization to stress granules. |
2022-05-13 |
2023-08-13 |
human |
| 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 Polett. Pathogenic variants of Valosin Containing Protein induce lysosomal damage and transcriptional activation of autophagy regulators in neuronal cells. Neuropathology and applied neurobiology. 2022-05-02. PMID:35501124. |
mutations in the valosin-containing protein (vcp) gene cause various lethal proteinopathies that mainly include inclusion body myopathy with paget's disease of bone frontotemporal dementia (ibmpfd) and amyotrophic lateral sclerosis (als). |
2022-05-02 |
2023-08-13 |
Not clear |
| Michelle A Johnson, Jacob A Klickstein, Richa Khanna, Yunzi Gou, Malavika Rama. The Cure VCP Scientific Conference 2021: Molecular and clinical insights into neurodegeneration and myopathy linked to multisystem proteinopathy-1 (MSP-1). Neurobiology of disease. 2022-04-11. PMID:35405261. |
mutations in vcp cause a complex and heterogenous disease termed inclusion body myopathy (ibm) with paget's disease of the bone (pdb) and frontotemporal dementia (ftd) (ibmpfd), or multisystem proteinopathy 1 (msp-1) kimonis (n.d.), kovach et al. |
2022-04-11 |
2023-08-13 |
Not clear |
| Francesca De Giorgi, Muhammed Bilal Abdul-Shukkoor, Marianna Kashyrina, Leslie-Ann Largitte, Francesco De Nuccio, Brice Kauffmann, Alons Lends, Florent Laferrière, Sébastien Bonhommeau, Dario Domenico Lofrumento, Luc Bousset, Erwan Bezard, Thierry Buffeteau, Antoine Loquet, François Icha. Neurons with Cat's Eyes: A Synthetic Strain of α-Synuclein Fibrils Seeding Neuronal Intranuclear Inclusions. Biomolecules. vol 12. issue 3. 2022-03-25. PMID:35327628. |
in contrast to the lentiform tdp-43 niis, which are observed in certain frontotemporal dementias and which are conditional upon grn or vcp mutations, our data support the hypothesis that the presence of α-syn niis in msa is instead purely amyloid-strain-dependent. |
2022-03-25 |
2023-08-13 |
mouse |
| Nicole Choy, Stephani Wang, Pablo Abbona, Dale Leffler, Virginia Kimoni. Severe cardiomyopathy associated with the VCP p.R155C and c.177_187del MYBPC3 gene variants. European journal of medical genetics. 2022-03-20. PMID:35306227. |
inclusion body myopathy, paget's disease, with frontotemporal dementia is a progressive autosomal dominant disease that affects the ubiquitin-proteasome complex, is caused by variants in the valosin containing protein (vcp) gene. |
2022-03-20 |
2023-08-13 |
Not clear |
| Manisha Korb, Allison Peck, Lindsay N Alfano, Kenneth I Berger, Meredith K James, Nupur Ghoshal, Elise Healzer, Claire Henchcliffe, Shaida Khan, Pradeep P A Mammen, Sujata Patel, Gerald Pfeffer, Stuart H Ralston, Bhaskar Roy, William W Seeley, Andrea Swenson, Tahseen Mozaffar, Conrad Weihl, Virginia Kimoni. Development of a standard of care for patients with valosin-containing protein associated multisystem proteinopathy. Orphanet journal of rare diseases. vol 17. issue 1. 2022-01-30. PMID:35093159. |
valosin-containing protein (vcp) associated multisystem proteinopathy (msp) is a rare inherited disorder that may result in multisystem involvement of varying phenotypes including inclusion body myopathy, paget's disease of bone (pdb), frontotemporal dementia (ftd), parkinsonism, and amyotrophic lateral sclerosis (als), among others. |
2022-01-30 |
2023-08-13 |
Not clear |
| Cheng Cheng, Lan Weiss, Henri Leinonen, Alyaa Shmara, Hong Z Yin, Timothy Ton, Annie Do, Jonathan Lee, Lac Ta, Eshanee Mohanty, Jesse Vargas, John Weiss, Krzysztof Palczewski, Virginia Kimoni. VCP/p97 inhibitor CB-5083 modulates muscle pathology in a mouse model of VCP inclusion body myopathy. Journal of translational medicine. vol 20. issue 1. 2022-01-09. PMID:34998409. |
pathogenic gain of function variants in valosin-containing protein (vcp) cause a unique disease characterized by inclusion body myopathy with early-onset paget disease of bone and frontotemporal dementia (also known as multisystem proteinopathy (msp)). |
2022-01-09 |
2023-08-13 |
mouse |