| MILANOWSKI, Lukasz M, Xu HOU, Jenny M BREDENBERG, Fabienne C FIESEL, Liam T COCKER, Alexandra I SOTO-BEASLEY, Ronald L WALTON, Audrey J STRONGOSKY, Ayman H FAROQI, Maria BARCIKOWSKA, Magdalena BOCZARSKA-JEDYNAK, Jaroslaw DULSKI, Lyuda FEDORYSHYN, Piotr JANIK, Anna POTULSKA-CHROMIK, Katherine KARPINSKY, Anna KRYGOWSKA-WAJS, Tim LYNCH, Diana A OLSZEWSKA, Grzegorz OPALA, Aleksander PULYK, Irena REKTOROVÁ, Yanosh SANOTSKY, Joanna SIUDA, Mariusz WIDLAK, Jaroslaw SLAWEK, Monika RUDZINSKA-BAR, Ryan UITTI, Monika FIGURA, Stanislaw SZLUFIK, Sylwia RZONCA-NIEWCZAS, Elzbieta PODGORSKA, Pamela J MCLEAN, Dariusz KOZIOROWSKI, Owen A ROSS, Dorota HOFFMAN-ZACHARSKA, Wolfdieter SPRINGER a Zbigniew K WSZOLEK. Cathepsin B p.Gly284Val Variant in Parkinson's Disease Pathogenesis. International Journal of Molecular Sciences. Basel: Multidisciplinary Digital Publishing Institute, 2022, roč. 23, č. 13, s. 7086-7097. ISSN 1422-0067. Dostupné z: https://dx.doi.org/10.3390/ijms23137086. |
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@article{2239498,
author = {Milanowski, Lukasz M and Hou, Xu and Bredenberg, Jenny M and Fiesel, Fabienne C and Cocker, Liam T and SotoandBeasley, Alexandra I and Walton, Ronald L and Strongosky, Audrey J and Faroqi, Ayman H and Barcikowska, Maria and BoczarskaandJedynak, Magdalena and Dulski, Jaroslaw and Fedoryshyn, Lyuda and Janik, Piotr and PotulskaandChromik, Anna and Karpinsky, Katherine and KrygowskaandWajs, Anna and Lynch, Tim and Olszewska, Diana A and Opala, Grzegorz and Pulyk, Aleksander and Rektorová, Irena and Sanotsky, Yanosh and Siuda, Joanna and Widlak, Mariusz and Slawek, Jaroslaw and RudzinskaandBar, Monika and Uitti, Ryan and Figura, Monika and Szlufik, Stanislaw and RzoncaandNiewczas, Sylwia and Podgorska, Elzbieta and McLean, Pamela J and Koziorowski, Dariusz and Ross, Owen A and HoffmanandZacharska, Dorota and Springer, Wolfdieter and Wszolek, Zbigniew K},
article_location = {Basel},
article_number = {13},
doi = {http://dx.doi.org/10.3390/ijms23137086},
keywords = {Parkinson's disease; familial forms; monogenic forms; CTSB; fibroblasts},
language = {eng},
issn = {1422-0067},
journal = {International Journal of Molecular Sciences},
title = {Cathepsin B p.Gly284Val Variant in Parkinson's Disease Pathogenesis},
url = {https://www.mdpi.com/1422-0067/23/13/7086},
volume = {23},
year = {2022}
}
TY - JOUR
ID - 2239498
AU - Milanowski, Lukasz M - Hou, Xu - Bredenberg, Jenny M - Fiesel, Fabienne C - Cocker, Liam T - Soto-Beasley, Alexandra I - Walton, Ronald L - Strongosky, Audrey J - Faroqi, Ayman H - Barcikowska, Maria - Boczarska-Jedynak, Magdalena - Dulski, Jaroslaw - Fedoryshyn, Lyuda - Janik, Piotr - Potulska-Chromik, Anna - Karpinsky, Katherine - Krygowska-Wajs, Anna - Lynch, Tim - Olszewska, Diana A - Opala, Grzegorz - Pulyk, Aleksander - Rektorová, Irena - Sanotsky, Yanosh - Siuda, Joanna - Widlak, Mariusz - Slawek, Jaroslaw - Rudzinska-Bar, Monika - Uitti, Ryan - Figura, Monika - Szlufik, Stanislaw - Rzonca-Niewczas, Sylwia - Podgorska, Elzbieta - McLean, Pamela J - Koziorowski, Dariusz - Ross, Owen A - Hoffman-Zacharska, Dorota - Springer, Wolfdieter - Wszolek, Zbigniew K
PY - 2022
TI - Cathepsin B p.Gly284Val Variant in Parkinson's Disease Pathogenesis
JF - International Journal of Molecular Sciences
VL - 23
IS - 13
SP - 7086
EP - 7086
PB - Multidisciplinary Digital Publishing Institute
SN - 14220067
KW - Parkinson's disease
KW - familial forms
KW - monogenic forms
KW - CTSB
KW - fibroblasts
UR - https://www.mdpi.com/1422-0067/23/13/7086
N2 - Parkinson's disease (PD) is generally considered a sporadic disorder, but a strong genetic background is often found. The aim of this study was to identify the underlying genetic cause of PD in two affected siblings and to subsequently assess the role of mutations in Cathepsin B (CTSB) in susceptibility to PD. A typical PD family was identified and whole-exome sequencing was performed in two affected siblings. Variants of interest were validated using Sanger sequencing. CTSB p.Gly284Val was genotyped in 2077 PD patients and 615 unrelated healthy controls from the Czech Republic, Ireland, Poland, Ukraine, and the USA. The gene burden analysis was conducted for the CTSB gene in an additional 769 PD probands from Mayo Clinic Florida familial PD cohort. CTSB expression and activity in patient-derived fibroblasts and controls were evaluated by qRT-PCR, western blot, immunocytochemistry, and enzymatic assay. The CTSB p.Gly284Val candidate variant was only identified in affected family members. Functional analysis of CTSB patient-derived fibroblasts under basal conditions did not reveal overt changes in endogenous expression, subcellular localization, or enzymatic activity in the heterozygous carrier of the CTSB variant. The identification of the CTSB p.Gly284Val may support the hypothesis that the CTSB locus harbors variants with differing penetrance that can determine the disease risk.
ER -
MILANOWSKI, Lukasz M, Xu HOU, Jenny M BREDENBERG, Fabienne C FIESEL, Liam T COCKER, Alexandra I SOTO-BEASLEY, Ronald L WALTON, Audrey J STRONGOSKY, Ayman H FAROQI, Maria BARCIKOWSKA, Magdalena BOCZARSKA-JEDYNAK, Jaroslaw DULSKI, Lyuda FEDORYSHYN, Piotr JANIK, Anna POTULSKA-CHROMIK, Katherine KARPINSKY, Anna KRYGOWSKA-WAJS, Tim LYNCH, Diana A OLSZEWSKA, Grzegorz OPALA, Aleksander PULYK, Irena REKTOROVÁ, Yanosh SANOTSKY, Joanna SIUDA, Mariusz WIDLAK, Jaroslaw SLAWEK, Monika RUDZINSKA-BAR, Ryan UITTI, Monika FIGURA, Stanislaw SZLUFIK, Sylwia RZONCA-NIEWCZAS, Elzbieta PODGORSKA, Pamela J MCLEAN, Dariusz KOZIOROWSKI, Owen A ROSS, Dorota HOFFMAN-ZACHARSKA, Wolfdieter SPRINGER a Zbigniew K WSZOLEK. Cathepsin B p.Gly284Val Variant in Parkinson's Disease Pathogenesis. \textit{International Journal of Molecular Sciences}. Basel: Multidisciplinary Digital Publishing Institute, 2022, roč.~23, č.~13, s.~7086-7097. ISSN~1422-0067. Dostupné z: https://dx.doi.org/10.3390/ijms23137086.
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