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- Multisystem_proteinopathy abstract "Multisystem proteinopathy (MSP) is a dominantly inherited, pleiotropic, degenerative disorder of humans that can affect muscle, bone and/or the central nervous system. MSP can manifest clinically as classical amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), inclusion body myopathy (IBM), Paget's disease of bone (PDB), or as a combination of these disorders. A useful operational definition of MSP is dominantly inherited degeneration that includes neurological involvement (either motor neuron disease or dementia) in combination with either distal myopathy or Pagetic bone degeneration. Most MSP patients present with weakness and of these ~65% present with motor neuron involvement. Up to 30% of MSP patients may have exclusively motor neuron involvement. Although MSP is rare, growing interest in this syndrome derives from the molecular insights the condition provides into the etiological relationship between common age-related degenerative diseases of muscle, bone and brain. It has been estimated that ~50% of MSP may be caused by missense mutations affecting the valosin-containing protein (VCP) gene. Additional genes linked to MSP include HNRNPA1, HNRNPA2B1, HNRNPDL, MATR3, DNAJB6, OPTN, and p62/SQSTM1. The histopathology of tissues affected by MSP include ubiquitin-positive cytoplasmic inclusions of RNA-binding proteins, such as TDP-43, hnRNPA1, hnRNPA2B1, and other components of RNA granules.".
- Multisystem_proteinopathy wikiPageID "41375255".
- Multisystem_proteinopathy wikiPageLength "3193".
- Multisystem_proteinopathy wikiPageOutDegree "14".
- Multisystem_proteinopathy wikiPageRevisionID "701712439".
- Multisystem_proteinopathy wikiPageWikiLink Amyotrophic_lateral_sclerosis.
- Multisystem_proteinopathy wikiPageWikiLink Category:Neurological_disorders.
- Multisystem_proteinopathy wikiPageWikiLink Category:Protein_folding.
- Multisystem_proteinopathy wikiPageWikiLink Frontotemporal_dementia.
- Multisystem_proteinopathy wikiPageWikiLink HNRNPA1.
- Multisystem_proteinopathy wikiPageWikiLink HNRNPA2B1.
- Multisystem_proteinopathy wikiPageWikiLink Hereditary_inclusion_body_myopathy.
- Multisystem_proteinopathy wikiPageWikiLink HnRNPA1.
- Multisystem_proteinopathy wikiPageWikiLink HnRNPA2B1.
- Multisystem_proteinopathy wikiPageWikiLink OPTN.
- Multisystem_proteinopathy wikiPageWikiLink Pagets_disease_of_bone.
- Multisystem_proteinopathy wikiPageWikiLink Sequestosome_1.
- Multisystem_proteinopathy wikiPageWikiLink TARDBP.
- Multisystem_proteinopathy wikiPageWikiLink Valosin-containing_protein.
- Multisystem_proteinopathy wikiPageWikiLinkText "multisystem proteinopathy".
- Multisystem_proteinopathy wikiPageUsesTemplate Template:Neuroscience-stub.
- Multisystem_proteinopathy wikiPageUsesTemplate Template:Reflist.
- Multisystem_proteinopathy subject Category:Neurological_disorders.
- Multisystem_proteinopathy subject Category:Protein_folding.
- Multisystem_proteinopathy comment "Multisystem proteinopathy (MSP) is a dominantly inherited, pleiotropic, degenerative disorder of humans that can affect muscle, bone and/or the central nervous system. MSP can manifest clinically as classical amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), inclusion body myopathy (IBM), Paget's disease of bone (PDB), or as a combination of these disorders.".
- Multisystem_proteinopathy label "Multisystem proteinopathy".
- Multisystem_proteinopathy sameAs Q17126319.
- Multisystem_proteinopathy sameAs m.0zrv7ky.
- Multisystem_proteinopathy sameAs Q17126319.
- Multisystem_proteinopathy wasDerivedFrom Multisystem_proteinopathy?oldid=701712439.
- Multisystem_proteinopathy isPrimaryTopicOf Multisystem_proteinopathy.