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Synucleinopathies
Synucleinopathies
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- Alafuzoff, Irina (författare)
- Uppsala universitet,Molekylär och morfologisk patologi
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- Pikkarainen, M (författare)
- Institute of Clinical Medicine, University of Eastern Finland, Kuopio, Finland
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- Parkkinen, L (författare)
- Department of Clinical Neurosciences, University of Oxford, John Radcliffe Hospital, Oxford, United Kingdom
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(creator_code:org_t)
- Cambridge University Press, 2015
- 2015
- Engelska.
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Ingår i: Neuropathology of neurodegenerative diseases. - : Cambridge University Press. - 9781107588660 - 9781107674202 ; , s. 149-175
- Relaterad länk:
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Ämnesord
Stäng
- Definition, structure and biochemical background Similar to other “proteinopathies,” the process that links α-synuclein (αS) protein to disease pathogenesis originated from the discovery that a single point mutation in the αS gene (i.e. SNCA) can cause autosomal-dominant Parkinson’s disease (PD) [1]. This was followed by the breakthrough finding that the actual transcribed protein was a major fibrillar component of pathological hallmarks known as Lewy bodies (LBs), Lewy neurites (LNs) and glial cytoplasmic inclusions characterizing a heterogeneous group of diseases, now collectively referred to as “synucleinopathies,” i.e. PD, PD with dementia (PDD), dementia with Lewy bodies (DLB) and multiple system atrophy (MSA) [2, 3]. Currently, there are five missense mutations (pA53T, p.A30P, p.E46K, p.H50Q and p.G51D) [1, 4–8] and multiplication mutations (SNCA duplication and triplication) [9–11] that are genetically linked to clinical parkinsonism (Table 9.1). This genetic and pathological linkage establishes αS as an important player in the development of these disorders.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Klinisk laboratoriemedicin (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Clinical Laboratory Medicine (hsv//eng)
Nyckelord
- Patologi
- Pathology
Publikations- och innehållstyp
- ref (ämneskategori)
- kap (ämneskategori)
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