Novel destabilizing Dynactin variant (DCTN1 p.Tyr78His) in
patient with Perry syndrome

J 2020

Novel destabilizing Dynactin variant (DCTN1 p.Tyr78His) in patient with Perry syndrome

ČIERNY, Marek, Sam I HOOSHMAND, Dominic FEE, Swarnendu TRIPATHI, Nikita R DSOUZA et. al.

Basic information

Original name

Novel destabilizing Dynactin variant (DCTN1 p.Tyr78His) in patient with Perry syndrome

Authors

ČIERNY, Marek, Sam I HOOSHMAND, Dominic FEE, Swarnendu TRIPATHI, Nikita R DSOUZA, Alison La Pean KIRSCHNER, Michael T ZIMMERMANN and Ryan BRENNAN

Edition

PARKINSONISM & RELATED DISORDERS, OXFORD, ELSEVIER SCI LTD, 2020, 1353-8020

Other information

Type of outcome

Článek v odborném periodiku

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

URL

Impact factor

Impact factor: 4.891

DOI

http://dx.doi.org/10.1016/j.parkreldis.2020.06.006

UT WoS

000578015000025

Keywords in English

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

Změněno: 18/9/2023 21:08, MUDr. Marek Čierny

Abstract

V originále

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.

Citovat

ČIERNY, Marek, Sam I HOOSHMAND, Dominic FEE, Swarnendu TRIPATHI, Nikita R DSOUZA, Alison La Pean KIRSCHNER, Michael T ZIMMERMANN and Ryan BRENNAN. Novel destabilizing Dynactin variant (DCTN1 p.Tyr78His) in patient with Perry syndrome. PARKINSONISM & RELATED DISORDERS. OXFORD: ELSEVIER SCI LTD, 2020, vol. 77, p. 110-113. ISSN 1353-8020. Available from: https://dx.doi.org/10.1016/j.parkreldis.2020.06.006.

@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 and Ryan BRENNAN. Novel destabilizing Dynactin variant (DCTN1 p.Tyr78His) in patient with Perry syndrome. \textit{PARKINSONISM \&{}amp; RELATED DISORDERS}. OXFORD: ELSEVIER SCI LTD, 2020, vol.~77, p.~110-113. ISSN~1353-8020. Available from: https://dx.doi.org/10.1016/j.parkreldis.2020.06.006.

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