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IBMPFD Disease-Causing Mutant VCP/p97 Proteins Are Targets of Autophagic-Lysosomal Degradation.
Bayraktar O, Oral O, Kocaturk NM, Akkoc Y, Eberhart K, Kosar A, Gozuacik D. Bayraktar O, et al. PLoS One. 2016 Oct 21;11(10):e0164864. doi: 10.1371/journal.pone.0164864. eCollection 2016. PLoS One. 2016. PMID: 27768726 Free PMC article.
VCP/p97 was implicated in both pathways. VCP/p97 mutations cause a rare multisystem disease called IBMPFD (Inclusion Body Myopathy with Paget's Disease and Frontotemporal Dementia). ...Our results indicate that cellul …
VCP/p97 was implicated in both pathways. VCP/p97 mutations cause a rare multisystem disease called IBMPFD (Inclusion
Multisystem proteinopathy: Where myopathy and motor neuron disease converge.
Korb MK, Kimonis VE, Mozaffar T. Korb MK, et al. Muscle Nerve. 2021 Apr;63(4):442-454. doi: 10.1002/mus.27097. Epub 2020 Nov 3. Muscle Nerve. 2021. PMID: 33145792 Review.
Multisystem proteinopathy (MSP) is a pleiotropic group of inherited disorders that cause neurodegeneration, myopathy, and bone disease, and share common pathophysiology. Originally referred to as inclusion body myopathy associated with Paget
Multisystem proteinopathy (MSP) is a pleiotropic group of inherited disorders that cause neurodegeneration, myopathy, and bone dis
Proteomic analysis of a drosophila IBMPFD model reveals potential pathogenic mechanisms.
Chan HT, Lee TR, Huang SH, Lee HY, Sang TK, Chan HL, Lyu PC. Chan HT, et al. Mol Biosyst. 2012 Jun;8(6):1730-41. doi: 10.1039/c2mb25037c. Epub 2012 Apr 5. Mol Biosyst. 2012. PMID: 22481368
IBMPFD, Inclusion body myopathy associated with Paget's disease of bone and frontotemporal dementia, is a hereditary degenerative disorder due to single missense mutations in VCP (Valosin-Containing Protein). ...With this se
IBMPFD, Inclusion body myopathy associated with Paget's disease of bone and frontotemporal
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.
Ikeda M, Kuwabara T, Takai E, Kasahara H, Furuta M, Sekine A, Makioka K, Yamazaki T, Fujita Y, Nagashima K, Higuchi T, Tsushima Y, Ikeda Y. Ikeda M, et al. Front Neurol. 2020 Aug 11;11:757. doi: 10.3389/fneur.2020.00757. eCollection 2020. Front Neurol. 2020. PMID: 32849216 Free PMC article.
Inclusion body myopathy (IBM) with Paget's disease of bone (PDB) and frontotemporal dementia (IBMPFD) presents with multiple symptoms and an unknown etiology. ...The CSF levels of NFL at two time points (12 years apart) were
Inclusion body myopathy (IBM) with Paget's disease of bone (PDB) and frontotemporal dementia
A novel VCP mutation as the cause of atypical IBMPFD in a Chinese family.
Gu JM, Ke YH, Yue H, Liu YJ, Zhang Z, Zhang H, Hu WW, Wang C, He JW, Hu YQ, Li M, Fu WZ, Zhang ZL. Gu JM, et al. Bone. 2013 Jan;52(1):9-16. doi: 10.1016/j.bone.2012.09.012. Epub 2012 Sep 19. Bone. 2013. PMID: 23000505
INTRODUCTION: Inclusion-body myopathy (IBM) with Paget's disease of bone (PDB) and frontotemporal dementia (FTD), designated as IBMPFD, is a rare, autosomal dominant disorder (MIM 605382). ...CONCLUSIONS: This is the first r …
INTRODUCTION: Inclusion-body myopathy (IBM) with Paget's disease of bone (PDB) and frontotemporal
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS.
Kim HJ, Kim NC, Wang YD, Scarborough EA, Moore J, Diaz Z, MacLea KS, Freibaum B, Li S, Molliex A, Kanagaraj AP, Carter R, Boylan KB, Wojtas AM, Rademakers R, Pinkus JL, Greenberg SA, Trojanowski JQ, Traynor BJ, Smith BN, Topp S, Gkazi AS, Miller J, Shaw CE, Kottlors M, Kirschner J, Pestronk A, Li YR, Ford AF, Gitler AD, Benatar M, King OD, Kimonis VE, Ross ED, Weihl CC, Shorter J, Taylor JP. Kim HJ, et al. Nature. 2013 Mar 28;495(7442):467-73. doi: 10.1038/nature11922. Epub 2013 Mar 3. Nature. 2013. PMID: 23455423 Free PMC article.
Algorithms designed to identify canonical yeast prions predict that around 250 human proteins, including several RNA-binding proteins associated with neurodegenerative disease, harbour a distinctive prion-like domain (PrLD) enriched in uncharged polar amino acids and glyci …
Algorithms designed to identify canonical yeast prions predict that around 250 human proteins, including several RNA-binding proteins associ …
VCP maintains lysosomal homeostasis and TFEB activity in differentiated skeletal muscle.
Arhzaouy K, Papadopoulos C, Schulze N, Pittman SK, Meyer H, Weihl CC. Arhzaouy K, et al. Autophagy. 2019 Jun;15(6):1082-1099. doi: 10.1080/15548627.2019.1569933. Epub 2019 Jan 29. Autophagy. 2019. PMID: 30654731 Free PMC article.
Differentiated tissue is particularly vulnerable to alterations in protein and organelle homeostasis. The essential protein VCP, mutated in hereditary inclusion body myopathy, amyotrophic lateral sclerosis and frontotemporal dementia, is critica …
Differentiated tissue is particularly vulnerable to alterations in protein and organelle homeostasis. The essential protein VCP, mutated in …
VCP/p97 controls signals of the ERK1/2 pathway transmitted via the Shoc2 scaffolding complex: novel insights into IBMPFD pathology.
Jang H, Jang ER, Wilson PG, Anderson D, Galperin E. Jang H, et al. Mol Biol Cell. 2019 Jul 1;30(14):1655-1663. doi: 10.1091/mbc.E19-03-0144. Epub 2019 May 15. Mol Biol Cell. 2019. PMID: 31091164 Free PMC article.
Abrogated ATPase activity leads to augmented ubiquitination of Shoc2/RAF-1 and altered phosphorylation of RAF-1. We found that in fibroblasts from patients with inclusion body myopathy with Paget's disease of bone and frontotemporal de
Abrogated ATPase activity leads to augmented ubiquitination of Shoc2/RAF-1 and altered phosphorylation of RAF-1. We found that in fibroblast …
A unique IBMPFD-related P97/VCP mutation with differential binding pattern and subcellular localization.
Erzurumlu Y, Kose FA, Gozen O, Gozuacik D, Toth EA, Ballar P. Erzurumlu Y, et al. Int J Biochem Cell Biol. 2013 Apr;45(4):773-82. doi: 10.1016/j.biocel.2013.01.006. Epub 2013 Jan 16. Int J Biochem Cell Biol. 2013. PMID: 23333620
p97/VCP is a hexameric AAA type ATPase that functions in a variety of cellular processes such as endoplasmic reticulum associated degradation (ERAD), organelle biogenesis, autophagy and cell-cycle regulation. Inclusion body myopathy associated with Paget
p97/VCP is a hexameric AAA type ATPase that functions in a variety of cellular processes such as endoplasmic reticulum associated degradatio …
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