PedAM
Pediatric Disease Annotations & Medicines
| Disease | myopathy |
| Phenotype | C0029401|paget disease |
| Sentences | 39 |
| PubMedID- 23715207 | Inclusion body myopathy with paget disease of bone and frontotemporal dementia is a progressive autosomal dominant disorder associated with a mutation in valosin-containing protein (vcp) with typical onset of symptoms in the 30s. |
| PubMedID- 21412659 | Inclusion body myopathy associated with paget disease and frontotemporal dementia (ibmpfd) is a progressive and usually misdiagnosed autosomal dominant disorder. |
| PubMedID- 25698929 | However, p97 dysfunction was recently linked to some forms of amyotrophic lateral sclerosis and hereditary inclusion body myopathy associated with paget disease of bone and frontotemporal dementia (ibmpfd) and a connection to failed mitochondrial quality control was suspected (yamanaka et al., 2012). |
| PubMedID- 25002991 | Soon after it was revealed that several mutations in the tardbp gene, which encodes tdp-43, can cause some rare forms of fals and sals.6,7 tdp-43 inclusions are also prevalent in two other rare, progressive neurodegenerative diseases: inclusion body myopathy with paget disease of bone and frontotemporal dementia (ibmpfd) and perry syndrome, as well as in secondary pathology in huntington, parkinson and alzheimer diseases.8 the conjunction of genetics and pathology place tdp-43 as a major player in als and related neurodegenerative diseases. |
| PubMedID- 23333620 | Inclusion body myopathy associated with paget disease of the bone and frontotemporal dementia (ibmpfd) is an autosomal dominant disorder which has been attributed to mutations in p97/vcp. |
| PubMedID- 23169451 | Introduction: mutations in the valosin-containing protein (vcp) gene cause hereditary inclusion body myopathy (ibm) associated with paget disease of bone (pdb), and frontotemporal dementia (ftd). |
| PubMedID- 22270372 | Here we have tested ten major inclusion body myopathy associated with paget disease of bone and frontotemporal dementia-linked mutants for atpase activity and found that all have increased activity over the wild type, with one mutant, p97(a232e), having three times higher activity. |
| PubMedID- 20604808 | Several mis-sense mutations in the human vcp gene have been identified in patients suffering inclusion body myopathy associated with paget disease of bone and frontotemporal dementia (ibmpfd). |
| PubMedID- 25457024 | Accumulating evidence has proven that mutations in the vcp gene encoding valosin-containing protein (vcp) cause inclusion body myopathy with paget disease of the bone and frontotemporal dementia. |
| PubMedID- 22105166 | Inclusion body myopathy with paget disease of the bone and frontotemporal dementia (ibmpfd) is a multisystem degenerative disorder caused by mutations in the valosin-containing protein (vcp) gene. |
| PubMedID- 24598262 | Mutations in human p97 (known as vcp) are linked to neurodegenerative disorders, such as amyotrophic lateral sclerosis [4] and inclusion body myopathy associated with paget disease of bone and frontotemporal dementia (ibmpfd) [5]. |
| PubMedID- 20301649 | Inclusion body myopathy with paget disease of bone and/or frontotemporal dementia |
| PubMedID- 22210628 | Immunoprecipitation assays revealed an abnormal interaction between atp7a(t994i) and p97/vcp, an ubiquitin-selective chaperone which is mutated in two autosomal dominant forms of motor neuron disease: amyotrophic lateral sclerosis and inclusion body myopathy with early-onset paget disease and fronto-temporal dementia. |
| PubMedID- 25492614 | Background: mutations in the valosin-containing protein (vcp) gene were first found to cause inclusion- body myopathy with early-onset paget disease and frontotemporal dementia (ibmpfd). |
| PubMedID- 25884947 | Mutations in the valosin containing protein (vcp) gene cause hereditary inclusion body myopathy (hibm) associated with paget disease of bone (pdb), frontotemporal dementia (ftd), more recently termed multisystem proteinopathy (msp). |
| PubMedID- 23827524 | Mutations in the prion-like domain (prld) of hnrnpa1 and a2/b1 genes were recently identified in 2 families with inclusion body myopathy associated with paget disease of bone, frontotemporal dementia (ftd), and amyotrophic lateral sclerosis, and in als patients. |
| PubMedID- 23868359 | Inclusion body myopathy with paget disease of the bone and frontotemporal dementia associated with a novel g156s mutation in the vcp gene. |
| PubMedID- 23900071 | Rec., autosomal recessive; ftd, frontotemporal dementia; ibmpfd, inclusion body myopathy with early-onset paget disease and frontotemporal dementia data from ad & ftd mutation database (http://www.molgen.ua.ac.be/ftdmutations accessed 29 july 2013) (164). |
| PubMedID- 20833645 | Mutations of the human valosin-containing protein gene cause autosomal-dominant inclusion body myopathy associated with paget disease of bone and frontotemporal dementia. |
| PubMedID- 25255315 | Mutations in vcp (valosin-containing protein), an aaa atpase critical for er-associated degradation, are linked to ibmpfd (inclusion body myopathy with paget disease and frontotemporal dementia). |
| PubMedID- 24838343 | Its dominant mutations cause hereditary inclusion body myopathy associated with paget disease of bone and frontotemporal dementia (ibmpfd) or amyotrophic lateral sclerosis. |
| PubMedID- 22728077 | To date, 19 different single amino acid-substitutions in vcp have been reported to cause ibmpfd (inclusion body myopathy associated with paget disease of bone and frontotemporal dementia), an autosomal dominant inherited human disease. |
| PubMedID- 21941597 | Most recently, mutations in the gene encoding valosin-containing protein (vcp), previously identified as causative for both frontotemporal dementia [35] and the rare syndrome ibmpfd (inclusion body myopathy with early-onset paget disease of the bone and frontotemporal dementia) [36], were described in a cohort of als patients using exome sequencing [37]. |
| PubMedID- 23747512 | Mutations in valosin-containing protein (vcp) cause a rare, autosomal dominant disease called inclusion body myopathy associated with paget disease of bone and frontotemporal dementia (ibmpfd). |
| PubMedID- 23630012 | Conversely, the accumulation of autophagosomes is a pathognomonic feature in other classes of myopathies including autophagic vacuolar myopathies (avms), lysosomal storage diseases, inclusion body myopathy with rimmed vacuoles paget disease of bone-frontotemporal dementia (ibmpfd) (nishino, 2003). |
| PubMedID- 25031631 | Vcp mutations also cause the syndrome of inclusion body myopathy with paget disease of bone and ftd [108]. |
| PubMedID- 21781992 | P97 was identified as a causative factor for inclusion body myopathy associated with paget disease of bone and frontotemporal dementia (ibmpfd) and more recently as a causative factor for amyotrophic lateral sclerosis (als). |
| PubMedID- 22105171 | Inclusion body myopathy with paget disease of bone and frontotemporal dementia (ibmpfd) is an autosomal dominant disorder characterized by progressive myopathy that is often accompanied by bone weakening and/or frontotemporal dementia. |
| PubMedID- 25388089 | Dominant mutations in the valosin-containing protein (vcp) gene cause inclusion body myopathy associated with paget disease of bone and frontotemporal dementia, which is characterized by progressive muscle weakness, dysfunction in bone remodeling, and frontotemporal dementia. |
| PubMedID- 21320982 | Inclusion body myopathy with paget disease of bone and frontotemporal dementia linked to vcp p.arg155cys in a korean family. |
| PubMedID- 22870330 | Some autosomal dominant mutations in the vcp gene cause inclusion body myopathy with paget disease of the bone and frontotemporal dementia (ibmpfd) which is a rare, late age–onset inherited degenerative disorder that can affect the muscles, bones and brain [13]. |
| PubMedID- 24612671 | Inclusion body myopathy (ibm) associated with paget disease of the bone, frontotemporal dementia (ftd), and amyotrophic lateral sclerosis (als), sometimes called ibmpfd/als or multi system proteinopathy, is a rare, autosomal dominant disorder characterized by progressive degeneration of muscle, brain, motor neurons, and bone with prominent tdp-43 pathology. |
| PubMedID- 23316025 | Regardless of the precise explanation for the differential activity of these compounds, the more selective behavior of ml241 suggests that developing pathway-specific p97 inhibitors may prove to be a valuable approach to study the role of p97 in regulating a variety of cellular pathways.31 pathway-selective p97 inhibitors with differential effects on apoptosis induction may enable the development of therapies that target p97 activity in diverse clinical settings, including ibmpfd (inclusion body myopathy associated with paget disease of bone and frontotemporal dementia),22, 11 retinitis pigmentosa,32 and cancer.33 understanding the basis of the divergent activities of ml240 and ml241 as well as potentially exploiting such effects toward the development of novel therapeutics are the aim of ongoing studies. |
| PubMedID- 26388768 | Other uncommon mutations have been identified in the valosin-containing protein (vcp) gene, which cause inclusion body myopathy with paget disease of bone and ftd (watts et al., 2004), and in the charged multivesicular body protein 2b (chmp2b) gene, involved in the endosomal–lysosomal pathway (skibinski et al., 2005). |
| PubMedID- 23439279 | Pathological phenotypes in inclusion body myopathy (ibm) associated with paget disease of the bone (pdb), frontotemporal dementia (ftd) and amyotrophic lateral sclerosis (als) (ibmpfd/als) include defective autophagosome and endosome maturation that result in vacuolation, weakness and muscle atrophy. |
| PubMedID- 21684747 | Inclusion body myopathy with paget disease and frontotemporal dementia (ibmpfd) is caused by mutations in the valosin-containing protein (vcp) gene. |
| PubMedID- 21503141 | Of these abcd1 (adrenoleukodytrophy), abcd3 (zellweger syndrome), dld (leigh syndrome and maple syrup urine disease, msud), fh (fumarase deficiency), hspd1 (spastic paraplegia 13 and hypomyelinating leukodystrophy), tufm (combined oxidative phosphorylation deficiency 4), and vcp (inclusion body myopathy with early onset paget disease and frontotemporal dementia) are associated with disease of the cns. |
| PubMedID- 22852081 | Mutations in vcp have previously been identified in patients with inclusion body myopathy associated with paget disease of bone and frontotemporal dementia (ibmpfd) [91]. |
| PubMedID- 22909335 | Genotype-phenotype studies of vcp-associated inclusion body myopathy with paget disease of bone and/or frontotemporal dementia. |
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