FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3021868314> ?p ?o ?g. }

• W3021868314 abstract "Abstract Parkinson’s disease (PD) and atypical parkinsonian syndromes (APS) are symptomatically characterized by parkinsonism, with the latter presenting additionally a distinctive range of atypical features. Although the majority of patients with PD and APS appear to be sporadic, genetic causes of several rare monogenic disease variants were identified. The knowledge acquired from these genetic factors indicated that defects in vesicular transport pathways, endo-lysosomal dysfunction, impaired autophagy-lysosomal protein and organelle degradation pathways, α-synuclein aggregation and mitochondrial dysfunction play key roles in PD pathogenesis. Moreover, membrane dynamics are increasingly recognized as a key player in the disease pathogenesis due lipid homeostasis alterations, associated with lysosomal dysfunction, caused by mutations in several PD and APS genes. The importance of lysosomal dysfunction and lipid homeostasis is strengthened by both genetic discoveries and clinical epidemiology of the association between parkinsonism and lysosomal storage disorders (LSDs), caused by the disruption of lysosomal biogenesis or function. A synergistic coordination between vesicular trafficking, lysosomal and mitochondria defects exist whereby mutations in PD and APS genes encoding proteins primarily involved one PD pathway are frequently associated with defects in other PD pathways as a secondary effect. Moreover, accumulating clinical and genetic observations suggest more complex inheritance patters of familial PD exist, including oligogenic and polygenic inheritance of genes in the same or interconnected PD pathways, further strengthening their synergistic connection. Here, we provide a comprehensive overview of PD and APS genes with functions in vesicular transport, lysosomal and mitochondrial pathways, and highlight functional and genetic evidence of the synergistic connection between these PD associated pathways." @default.
• W3021868314 created "2020-05-13" @default.
• W3021868314 creator A5039639102 @default.
• W3021868314 creator A5078050117 @default.
• W3021868314 date "2020-05-06" @default.
• W3021868314 modified "2023-10-18" @default.
• W3021868314 title "Genetic perspective on the synergistic connection between vesicular transport, lysosomal and mitochondrial pathways associated with Parkinson’s disease pathogenesis" @default.
• W3021868314 cites W126348829 @default.
• W3021868314 cites W1408841334 @default.
• W3021868314 cites W1424354897 @default.
• W3021868314 cites W1443506455 @default.
• W3021868314 cites W1499820592 @default.
• W3021868314 cites W1501828178 @default.
• W3021868314 cites W1510430912 @default.
• W3021868314 cites W1510849499 @default.
• W3021868314 cites W1527671059 @default.
• W3021868314 cites W1530007708 @default.
• W3021868314 cites W1535104085 @default.
• W3021868314 cites W1539334271 @default.
• W3021868314 cites W1547904215 @default.
• W3021868314 cites W1550876205 @default.
• W3021868314 cites W1555901676 @default.
• W3021868314 cites W1561611826 @default.
• W3021868314 cites W1566155366 @default.
• W3021868314 cites W1583245386 @default.
• W3021868314 cites W1611134798 @default.
• W3021868314 cites W1660083296 @default.
• W3021868314 cites W1815242288 @default.
• W3021868314 cites W1852530796 @default.
• W3021868314 cites W1859468577 @default.
• W3021868314 cites W1863994515 @default.
• W3021868314 cites W1864669235 @default.
• W3021868314 cites W1866238768 @default.
• W3021868314 cites W1929625487 @default.
• W3021868314 cites W1957983000 @default.
• W3021868314 cites W1961936833 @default.
• W3021868314 cites W1963498758 @default.
• W3021868314 cites W1964832799 @default.
• W3021868314 cites W1965573624 @default.
• W3021868314 cites W1965641455 @default.
• W3021868314 cites W1965778124 @default.
• W3021868314 cites W1965940344 @default.
• W3021868314 cites W1971624791 @default.
• W3021868314 cites W1973738022 @default.
• W3021868314 cites W1974927898 @default.
• W3021868314 cites W1976393002 @default.
• W3021868314 cites W1977044612 @default.
• W3021868314 cites W1978659393 @default.
• W3021868314 cites W1980449640 @default.
• W3021868314 cites W1981426567 @default.
• W3021868314 cites W1983066584 @default.
• W3021868314 cites W1984576566 @default.
• W3021868314 cites W1987155530 @default.
• W3021868314 cites W1990287702 @default.
• W3021868314 cites W1990387678 @default.
• W3021868314 cites W1992473168 @default.
• W3021868314 cites W1993140263 @default.
• W3021868314 cites W1993158029 @default.
• W3021868314 cites W1994263020 @default.
• W3021868314 cites W1994367478 @default.
• W3021868314 cites W1996637092 @default.
• W3021868314 cites W1996878434 @default.
• W3021868314 cites W1997228618 @default.
• W3021868314 cites W2001374041 @default.
• W3021868314 cites W2002269285 @default.
• W3021868314 cites W2002358648 @default.
• W3021868314 cites W2002978401 @default.
• W3021868314 cites W2003883601 @default.
• W3021868314 cites W2004358416 @default.
• W3021868314 cites W2005515561 @default.
• W3021868314 cites W2006220351 @default.
• W3021868314 cites W2006463991 @default.
• W3021868314 cites W2009573330 @default.
• W3021868314 cites W2010095758 @default.
• W3021868314 cites W2010531966 @default.
• W3021868314 cites W2010632554 @default.
• W3021868314 cites W2010717540 @default.
• W3021868314 cites W2014270209 @default.
• W3021868314 cites W2014485936 @default.
• W3021868314 cites W2017922276 @default.
• W3021868314 cites W2018414196 @default.
• W3021868314 cites W2020579700 @default.
• W3021868314 cites W2021493210 @default.
• W3021868314 cites W2022861593 @default.
• W3021868314 cites W2024255164 @default.
• W3021868314 cites W2025306989 @default.
• W3021868314 cites W2025819909 @default.
• W3021868314 cites W2026324678 @default.
• W3021868314 cites W2026841498 @default.
• W3021868314 cites W2029198171 @default.
• W3021868314 cites W2030769704 @default.
• W3021868314 cites W2031365272 @default.
• W3021868314 cites W2032963931 @default.
• W3021868314 cites W2034407193 @default.
• W3021868314 cites W2036006438 @default.
• W3021868314 cites W2036699877 @default.
• W3021868314 cites W2037810877 @default.
• W3021868314 cites W2038231552 @default.
• W3021868314 cites W2038735303 @default.
• W3021868314 cites W2039321321 @default.

• next