FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4313639148> ?p ?o ?g. }

• W4313639148 endingPage "2173" @default.
• W4313639148 startingPage "2150" @default.
• W4313639148 abstract "Parkinson's disease (PD) represents the most common neurodegenerative movement disorder. We recently identified 16 novel genes associated with PD. In this study, we focused the attention on the common and rare variants identified in the lysosomal K+ channel TMEM175. The study includes a detailed clinical and genetic analysis of 400 cases and 300 controls. Molecular studies were performed on patient-derived fibroblasts. The functional properties of the mutant channels were assessed by patch-clamp technique and co-immunoprecipitation. We have found that TMEM175 was highly expressed in dopaminergic neurons of the substantia nigra pars compacta and in microglia of the cerebral cortex of the human brain. Four common variants were associated with PD, including two novel variants rs2290402 (c.-10C > T) and rs80114247 (c.T1022C, p.M341T), located in the Kozak consensus sequence and TM3II domain, respectively. We also disclosed 13 novel highly penetrant detrimental mutations in the TMEM175 gene associated with PD. At least nine of these mutations (p.R35C, p. R183X, p.A270T, p.P308L, p.S348L, p. L405V, p.R414W, p.P427fs, p.R481W) may be sufficient to cause the disease, and the presence of mutations of other genes correlated with an earlier disease onset. In vitro functional analysis of the ion channel encoded by the mutated TMEM175 gene revealed a loss of the K+ conductance and a reduced channel affinity for Akt. Moreover, we observed an impaired autophagic/lysosomal proteolytic flux and an increase expression of unfolded protein response markers in patient-derived fibroblasts. These data suggest that mutations in TMEM175 gene may contribute to the pathophysiology of PD." @default.
• W4313639148 created "2023-01-07" @default.
• W4313639148 creator A5001430962 @default.
• W4313639148 creator A5002498758 @default.
• W4313639148 creator A5004599076 @default.
• W4313639148 creator A5022337943 @default.
• W4313639148 creator A5026189897 @default.
• W4313639148 creator A5027952986 @default.
• W4313639148 creator A5029013428 @default.
• W4313639148 creator A5037765875 @default.
• W4313639148 creator A5054280307 @default.
• W4313639148 creator A5060783776 @default.
• W4313639148 creator A5062403608 @default.
• W4313639148 creator A5064196678 @default.
• W4313639148 creator A5065026426 @default.
• W4313639148 creator A5069271291 @default.
• W4313639148 creator A5073818183 @default.
• W4313639148 creator A5074708648 @default.
• W4313639148 creator A5080961537 @default.
• W4313639148 creator A5081452988 @default.
• W4313639148 creator A5084038560 @default.
• W4313639148 creator A5085143207 @default.
• W4313639148 creator A5091640132 @default.
• W4313639148 date "2023-01-07" @default.
• W4313639148 modified "2023-10-05" @default.
• W4313639148 title "Common and Rare Variants in TMEM175 Gene Concur to the Pathogenesis of Parkinson’s Disease in Italian Patients" @default.
• W4313639148 cites W1983421775 @default.
• W4313639148 cites W1992237817 @default.
• W4313639148 cites W1993305977 @default.
• W4313639148 cites W2052029497 @default.
• W4313639148 cites W2071536472 @default.
• W4313639148 cites W2112455323 @default.
• W4313639148 cites W2117503265 @default.
• W4313639148 cites W2119399459 @default.
• W4313639148 cites W2133712431 @default.
• W4313639148 cites W2134829539 @default.
• W4313639148 cites W2141459724 @default.
• W4313639148 cites W2170281382 @default.
• W4313639148 cites W2173475629 @default.
• W4313639148 cites W2182436695 @default.
• W4313639148 cites W2300117615 @default.
• W4313639148 cites W2315910577 @default.
• W4313639148 cites W2474991972 @default.
• W4313639148 cites W2550736838 @default.
• W4313639148 cites W2588858201 @default.
• W4313639148 cites W2736768507 @default.
• W4313639148 cites W2754278602 @default.
• W4313639148 cites W2769214063 @default.
• W4313639148 cites W2790911095 @default.
• W4313639148 cites W2801491392 @default.
• W4313639148 cites W2806809913 @default.
• W4313639148 cites W2955664250 @default.
• W4313639148 cites W2959335923 @default.
• W4313639148 cites W2972558831 @default.
• W4313639148 cites W2981880817 @default.
• W4313639148 cites W2991456852 @default.
• W4313639148 cites W3003022248 @default.
• W4313639148 cites W3003719762 @default.
• W4313639148 cites W3006139820 @default.
• W4313639148 cites W3014547867 @default.
• W4313639148 cites W3036250178 @default.
• W4313639148 cites W3045733764 @default.
• W4313639148 cites W3080632072 @default.
• W4313639148 cites W3092410808 @default.
• W4313639148 cites W3124663999 @default.
• W4313639148 cites W3132629069 @default.
• W4313639148 cites W3151818444 @default.
• W4313639148 cites W3157045555 @default.
• W4313639148 cites W3158951040 @default.
• W4313639148 cites W3159424636 @default.
• W4313639148 cites W3164236065 @default.
• W4313639148 cites W3166045857 @default.
• W4313639148 cites W3171689539 @default.
• W4313639148 cites W3177149152 @default.
• W4313639148 cites W3208548401 @default.
• W4313639148 cites W4206297637 @default.
• W4313639148 cites W4206481149 @default.
• W4313639148 cites W4280606682 @default.
• W4313639148 cites W4281609742 @default.
• W4313639148 cites W4283378439 @default.
• W4313639148 cites W2999270525 @default.
• W4313639148 doi "https://doi.org/10.1007/s12035-022-03203-9" @default.
• W4313639148 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36609826" @default.
• W4313639148 hasPublicationYear "2023" @default.
• W4313639148 type Work @default.
• W4313639148 citedByCount "1" @default.
• W4313639148 countsByYear W43136391482023 @default.
• W4313639148 crossrefType "journal-article" @default.
• W4313639148 hasAuthorship W4313639148A5001430962 @default.
• W4313639148 hasAuthorship W4313639148A5002498758 @default.
• W4313639148 hasAuthorship W4313639148A5004599076 @default.
• W4313639148 hasAuthorship W4313639148A5022337943 @default.
• W4313639148 hasAuthorship W4313639148A5026189897 @default.
• W4313639148 hasAuthorship W4313639148A5027952986 @default.
• W4313639148 hasAuthorship W4313639148A5029013428 @default.
• W4313639148 hasAuthorship W4313639148A5037765875 @default.
• W4313639148 hasAuthorship W4313639148A5054280307 @default.
• W4313639148 hasAuthorship W4313639148A5060783776 @default.

• next