| 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 |
| Tzyy-Nan Huang, Yu-Tzu Shih, Tzu-Li Yen, Yi-Ping Hsue. Vcp overexpression and leucine supplementation extend lifespan and ameliorate neuromuscular junction phenotypes of a SOD1G93A-ALS mouse model. Human molecular genetics. 2024-02-21. PMID:38382647. |
many genes with distinct molecular functions have been linked to genetically heterogeneous amyotrophic lateral sclerosis (als), including superoxide dismutase 1 (sod1) and valosin-containing protein (vcp). |
2024-02-21 |
2024-02-24 |
mouse |
| 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 |
| Mahmoud-Reza Rafiee, Sara Rohban, Karen Davey, Jernej Ule, Nicholas M Luscomb. RNA polymerase II-associated proteins reveal pathways affected in VCP-related amyotrophic lateral sclerosis. Brain : a journal of neurology. 2023-02-15. PMID:36789492. |
genetic mutations in vcp are associated with several forms of muscular and neuronal degeneration, including amyotrophic lateral sclerosis. |
2023-02-15 |
2023-08-14 |
Not clear |
| 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 |
| Shu-Yan Feng, Han Lin, Chun-Hui Che, Hua-Pin Huang, Chang-Yun Liu, Zhang-Yu Zo. Phenotype of VCP Mutations in Chinese Amyotrophic Lateral Sclerosis Patients. Frontiers in neurology. vol 13. 2022-02-24. PMID:35197922. |
phenotype of vcp mutations in chinese amyotrophic lateral sclerosis patients. |
2022-02-24 |
2023-08-13 |
Not clear |
| Shu-Yan Feng, Han Lin, Chun-Hui Che, Hua-Pin Huang, Chang-Yun Liu, Zhang-Yu Zo. Phenotype of VCP Mutations in Chinese Amyotrophic Lateral Sclerosis Patients. Frontiers in neurology. vol 13. 2022-02-24. PMID:35197922. |
mutations in the valosin-containing protein (vcp) gene have been linked to amyotrophic lateral sclerosis (als) in the caucasian populations. |
2022-02-24 |
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 |
| Tomoyasu Matsubara, Yuishin Izumi, Masaya Oda, Masatoshi Takahashi, Hirofumi Maruyama, Ryosuke Miyamoto, Chigusa Watanabe, Yoshiro Tachiyama, Hiroyuki Morino, Hideshi Kawakami, Yuko Saito, Shigeo Murayam. An autopsy report of a familial amyotrophic lateral sclerosis case carrying VCP Arg487His mutation with a unique TDP-43 proteinopathy. Neuropathology : official journal of the Japanese Society of Neuropathology. vol 41. issue 2. 2021-11-17. PMID:33415820. |
an autopsy report of a familial amyotrophic lateral sclerosis case carrying vcp arg487his mutation with a unique tdp-43 proteinopathy. |
2021-11-17 |
2023-08-13 |
Not clear |
| Tomoyasu Matsubara, Yuishin Izumi, Masaya Oda, Masatoshi Takahashi, Hirofumi Maruyama, Ryosuke Miyamoto, Chigusa Watanabe, Yoshiro Tachiyama, Hiroyuki Morino, Hideshi Kawakami, Yuko Saito, Shigeo Murayam. An autopsy report of a familial amyotrophic lateral sclerosis case carrying VCP Arg487His mutation with a unique TDP-43 proteinopathy. Neuropathology : official journal of the Japanese Society of Neuropathology. vol 41. issue 2. 2021-11-17. PMID:33415820. |
we here report an autopsy case of familial amyotrophic lateral sclerosis (als) with p.arg487his mutation in the valosin-containing protein (vcp) gene (vcp), in which upper motor neurons (umns) were predominantly involved. |
2021-11-17 |
2023-08-13 |
Not clear |
| Jordan M Wall, Ankita Basu, Elizabeth R M Zunica, Olga S Dubuisson, Kathryn Pergola, Joshua P Broussard, John P Kirwan, Christopher L Axelrod, Alyssa E Johnso. CRISPR/Cas9-engineered Drosophila knock-in models to study VCP diseases. Disease models & mechanisms. vol 14. issue 7. 2021-10-29. PMID:34160014. |
mutations in valosin containing protein (vcp) are associated with several degenerative diseases, including multisystem proteinopathy (msp-1) and amyotrophic lateral sclerosis. |
2021-10-29 |
2023-08-13 |
drosophila_melanogaster |
| Lan Weiss, Kwang-Mook Jung, Angele Nalbandian, Katrina Llewellyn, Howard Yu, Lac Ta, Isabela Chang, Marco Migliore, Erica Squire, Faizy Ahmed, Daniele Piomelli, Virginia Kimoni. Ceramide contributes to pathogenesis and may be targeted for therapy in VCP inclusion body myopathy. Human molecular genetics. vol 29. issue 24. 2021-09-21. PMID:33410456. |
knock-in homozygote vcpr155h/r155h mutant mice are a lethal model of valosin-containing protein (vcp)-associated inclusion body myopathy associated with paget disease of bone, frontotemporal dementia and amyotrophic lateral sclerosis. |
2021-09-21 |
2023-08-13 |
mouse |
| Alyssa E Johnson, Brian O Orr, Richard D Fetter, Armen J Moughamian, Logan A Primeaux, Ethan G Geier, Jennifer S Yokoyama, Bruce L Miller, Graeme W Davi. SVIP is a molecular determinant of lysosomal dynamic stability, neurodegeneration and lifespan. Nature communications. vol 12. issue 1. 2021-02-08. PMID:33479240. |
missense mutations in valosin-containing protein (vcp) are linked to diverse degenerative diseases including ibmpfd, amyotrophic lateral sclerosis (als), muscular dystrophy and parkinson's disease. |
2021-02-08 |
2023-08-13 |
human |
| Rüstem Yilmaz, Kathrin Müller, David Brenner, Alexander E Volk, Guntram Borck, Andreas Hermann, Thomas Meitinger, Tim M Strom, Karin M Danzer, Albert C Ludolph, Peter M Andersen, Jochen H Weishaup. SQSTM1/p62 variants in 486 patients with familial ALS from Germany and Sweden. Neurobiology of aging. vol 87. 2020-09-14. PMID:31859009. |
several studies reported amyotrophic lateral sclerosis (als)-linked mutations in tbk1, optn, vcp, ubqln2, and sqstm1 genes encoding proteins involved in autophagy. |
2020-09-14 |
2023-08-13 |
Not clear |
| Khalid Arhzaouy, Chrisovalantis Papadopoulos, Nina Schulze, Sara K Pittman, Hemmo Meyer, Conrad C Weih. VCP maintains lysosomal homeostasis and TFEB activity in differentiated skeletal muscle. Autophagy. vol 15. issue 6. 2020-06-15. PMID:30654731. |
the essential protein vcp, mutated in hereditary inclusion body myopathy, amyotrophic lateral sclerosis and frontotemporal dementia, is critical for efficient clearance of misfolded proteins and damaged organelles in dividing cells, but its role in terminally differentiated tissue affected by disease mutations is less clear. |
2020-06-15 |
2023-08-13 |
mouse |
| Erratum: A patient with familial amyotrophic lateral sclerosis associated with a new valosin-containing protein (VCP) gene mutation. Rinsho shinkeigaku = Clinical neurology. vol 56. issue 4. 2019-11-20. PMID:27151096. |
erratum: a patient with familial amyotrophic lateral sclerosis associated with a new valosin-containing protein (vcp) gene mutation. |
2019-11-20 |
2023-08-13 |
Not clear |
| Monika Kustermann, Linda Manta, Christoph Paone, Jochen Kustermann, Ludwig Lausser, Cora Wiesner, Ludwig Eichinger, Christoph S Clemen, Rolf Schröder, Hans A Kestler, Marco Sandri, Wolfgang Rottbauer, Steffen Jus. Loss of the novel Vcp (valosin containing protein) interactor Washc4 interferes with autophagy-mediated proteostasis in striated muscle and leads to myopathy in vivo. Autophagy. vol 14. issue 11. 2019-10-29. PMID:30010465. |
in humans, mutations in vcp lead to severe myo- and neuro-degenerative disorders such as inclusion body myopathy with paget disease of the bone and frontotemporal dementia (ibmpfd), amyotrophic lateral sclerosis (als) or and hereditary spastic paraplegia (hsp). |
2019-10-29 |
2023-08-13 |
zebrafish |
| Sejad Al-Tahan, Ebaa Al-Obeidi, Hiroshi Yoshioka, Anita Lakatos, Lan Weiss, Marjorie Grafe, Johanna Palmio, Matt Wicklund, Yadollah Harati, Molly Omizo, Bjarne Udd, Virginia Kimoni. Novel valosin-containing protein mutations associated with multisystem proteinopathy. Neuromuscular disorders : NMD. vol 28. issue 6. 2019-10-23. PMID:29754758. |
over fifty missense mutations in the gene coding for valosin-containing protein (vcp) are associated with a unique autosomal dominant adult-onset progressive disease associated with combinations of proximo-distal inclusion body myopathy (ibm), paget's disease of bone (pdb), frontotemporal dementia (ftd), and amyotrophic lateral sclerosis (als). |
2019-10-23 |
2023-08-13 |
Not clear |