Zobrazeno 1 - 10
of 122
pro vyhledávání: '"Joachim Berger"'
Autor:
Inken G. Huttner, Celine F. Santiago, Arie Jacoby, Delfine Cheng, Gunjan Trivedi, Stephen Cull, Jasmina Cvetkovska, Renee Chand, Joachim Berger, Peter D. Currie, Kelly A. Smith, Diane Fatkin
Publikováno v:
Journal of Cardiovascular Development and Disease, Vol 10, Iss 10, p 408 (2023)
Dilated cardiomyopathy (DCM) is a common heart muscle disorder that frequently leads to heart failure, arrhythmias, and death. While DCM is often heritable, disease-causing mutations are identified in only ~30% of cases. In a forward genetic mutagene
Externí odkaz:
https://doaj.org/article/25a88d7c2438408e9bbcc8a2e84a4113
Publikováno v:
Journal of Ophthalmic & Vision Research, Vol 18, Iss 1, Pp 1-2 (2023)
Abstract Purpose: Mutations in TCP-1 ring complex (TRiC) have been associated with Leber Congenital Amaurosis (LCA). TRiC is involved in protein folding and has 8 essential subunits including CCT5. Herein, we studied the retina of TRiC mutant zebrafi
Externí odkaz:
https://doaj.org/article/34f710ccd5b2410989160822753044c3
Publikováno v:
PLoS Genetics, Vol 18, Iss 6, p e1010287 (2022)
Myofibrils of the skeletal muscle are comprised of sarcomeres that generate force by contraction when myosin-rich thick filaments slide past actin-based thin filaments. Surprisingly little is known about the molecular processes that guide sarcomere a
Externí odkaz:
https://doaj.org/article/d4529faf2ec244939ffa147d16ae4ce3
Publikováno v:
PLoS Genetics, Vol 18, Iss 2, p e1010066 (2022)
Myofibrils within skeletal muscle are composed of sarcomeres that generate force by contraction when their myosin-rich thick filaments slide past actin-based thin filaments. Although mutations in components of the sarcomere are a major cause of human
Externí odkaz:
https://doaj.org/article/5b70acb587c64d85a956a5df9a8e94b9
Autor:
Joachim Berger, Silke Berger, Mei Li, Arie S. Jacoby, Anders Arner, Navid Bavi, Alastair G. Stewart, Peter D. Currie
Publikováno v:
Cell Reports, Vol 22, Iss 2, Pp 313-322 (2018)
Summary: The TCP-1 ring complex (TRiC) is a multi-subunit group II chaperonin that assists nascent or misfolded proteins to attain their native conformation in an ATP-dependent manner. Functional studies in yeast have suggested that TRiC is an essent
Externí odkaz:
https://doaj.org/article/69e15fcc4b854123a6ac167fc71e5afc
Autor:
Joachim Berger, Hakan Tarakci, Silke Berger, Mei Li, Thomas E. Hall, Anders Arner, Peter D. Currie
Publikováno v:
Disease Models & Mechanisms, Vol 7, Iss 12, Pp 1407-1415 (2014)
Nemaline myopathy is an inherited muscle disease that is mainly diagnosed by the presence of nemaline rods in muscle biopsies. Of the nine genes associated with the disease, five encode components of striated muscle sarcomeres. In a genetic zebrafish
Externí odkaz:
https://doaj.org/article/7154b413620f4845b721d1de486b14f2
Autor:
Joachim Berger, Peter D. Currie
Publikováno v:
Disease Models & Mechanisms, Vol 5, Iss 6, Pp 726-732 (2012)
Muscular dystrophies are a group of genetic disorders that specifically affect skeletal muscle and are characterized by progressive muscle degeneration and weakening. To develop therapies and treatments for these diseases, a better understanding of t
Externí odkaz:
https://doaj.org/article/f4072b7dc66447cebeb1fd2ced918a0e
Autor:
Manuela Cervelli, Gabriella Bellavia, Marcello D'Amelio, Virve Cavallucci, Sandra Moreno, Joachim Berger, Roberta Nardacci, Manuela Marcoli, Guido Maura, Mauro Piacentini, Roberto Amendola, Francesco Cecconi, Paolo Mariottini
Publikováno v:
PLoS ONE, Vol 8, Iss 6, p e64810 (2013)
Spermine oxidase is a FAD-containing enzyme involved in polyamines catabolism, selectively oxidizing spermine to produce H2O2, spermidine, and 3-aminopropanal. Spermine oxidase is highly expressed in the mouse brain and plays a key role in regulating
Externí odkaz:
https://doaj.org/article/6644fee4ffc6412d819ef22d3c25fb6f
Publikováno v:
Journal of Ophthalmic and Vision Research.
Purpose: Mutations in TCP-1 ring complex (TRiC) have been associated with Leber Congenital Amaurosis (LCA). TRiC is involved in protein folding and has 8 essential subunits including CCT5. Herein, we studied the retina of TRiC mutant zebrafish to eva
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f1182b62175f3f84cd3c9e79f30f32d2
https://doi.org/10.18502/jovr.v18i1.12726
https://doi.org/10.18502/jovr.v18i1.12726
Autor:
Diane Fatkin, Inken G. Huttner, Celine F. Santiago, Arie Jacoby, Delfine Cheng, Gunjan Trivedi, Stephen Cull, Jasmina Cvetkovska, Renee Chand, Joachim Berger, Peter D. Currie, Kelly A. Smith
Publikováno v:
SSRN Electronic Journal.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::49108bc5ff016e7d3b9a0607c5a172ec
https://doi.org/10.2139/ssrn.4329887
https://doi.org/10.2139/ssrn.4329887