| ČIERNY, Marek, Sam I HOOSHMAND, Dominic FEE, Swarnendu TRIPATHI, Nikita R DSOUZA, Alison La Pean KIRSCHNER, Michael T ZIMMERMANN a Ryan BRENNAN. Novel destabilizing Dynactin variant (DCTN1 p.Tyr78His) in patient with Perry syndrome. PARKINSONISM & RELATED DISORDERS. OXFORD: ELSEVIER SCI LTD, 2020, roč. 77, s. 110-113. ISSN 1353-8020. Dostupné z: https://dx.doi.org/10.1016/j.parkreldis.2020.06.006. |
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@article{2313257,
author = {Čierny, Marek and Hooshmand, Sam I and Fee, Dominic and Tripathi, Swarnendu and Dsouza, Nikita R and Kirschner, Alison La Pean and Zimmermann, Michael T and Brennan, Ryan},
article_location = {OXFORD},
doi = {http://dx.doi.org/10.1016/j.parkreldis.2020.06.006},
keywords = {Atypical parkinsonism; DCTN1; Dynactin; Genetics; Perry disease; Perry syndrome; Microtubules; Type 2 respiratory failure; Autophagy; Nocturnal hypopnea; p150(Glued); Protein stability; Predicted folding free energy; Protein modeling; Microtubule associated protein RP/EB family member 1; EB1},
issn = {1353-8020},
journal = {PARKINSONISM & RELATED DISORDERS},
title = {Novel destabilizing Dynactin variant (DCTN1 p.Tyr78His) in patient with Perry syndrome},
url = {https://www.sciencedirect.com/science/article/pii/S1353802020301711},
volume = {77},
year = {2020}
}
TY - JOUR
ID - 2313257
AU - Čierny, Marek - Hooshmand, Sam I - Fee, Dominic - Tripathi, Swarnendu - Dsouza, Nikita R - Kirschner, Alison La Pean - Zimmermann, Michael T - Brennan, Ryan
PY - 2020
TI - Novel destabilizing Dynactin variant (DCTN1 p.Tyr78His) in patient with Perry syndrome
JF - PARKINSONISM & RELATED DISORDERS
VL - 77
SP - 110-113
EP - 110-113
PB - ELSEVIER SCI LTD
SN - 13538020
KW - Atypical parkinsonism
KW - DCTN1
KW - Dynactin
KW - Genetics
KW - Perry disease
KW - Perry syndrome
KW - Microtubules
KW - Type 2 respiratory failure
KW - Autophagy
KW - Nocturnal hypopnea
KW - p150(Glued)
KW - Protein stability
KW - Predicted folding free energy
KW - Protein modeling
KW - Microtubule associated protein RP/EB family member 1
KW - EB1
UR - https://www.sciencedirect.com/science/article/pii/S1353802020301711
N2 - Introduction: Perry syndrome, also recognized as Perry disease, is a rare autosomal dominant disorder characterized by midlife-onset atypical parkinsonism, apathy or depression, respiratory failure and weight loss caused by a mutation in the Dynactin (DCTN1) gene.
ER -
ČIERNY, Marek, Sam I HOOSHMAND, Dominic FEE, Swarnendu TRIPATHI, Nikita R DSOUZA, Alison La Pean KIRSCHNER, Michael T ZIMMERMANN a Ryan BRENNAN. Novel destabilizing Dynactin variant (DCTN1 p.Tyr78His) in patient with Perry syndrome. \textit{PARKINSONISM \&{}amp; RELATED DISORDERS}. OXFORD: ELSEVIER SCI LTD, 2020, roč.~77, s.~110-113. ISSN~1353-8020. Dostupné z: https://dx.doi.org/10.1016/j.parkreldis.2020.06.006.
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