Zobrazeno 1 - 10
of 37
pro vyhledávání: '"Jonathan P Schlebach"'
Autor:
Laura M Chamness, Charles P Kuntz, Andrew G McKee, Wesley D Penn, Christopher M Hemmerich, Douglas B Rusch, Hope Woods, Dyotima, Jens Meiler, Jonathan P Schlebach
Publikováno v:
eLife, Vol 12 (2024)
Many membrane proteins are prone to misfolding, which compromises their functional expression at the plasma membrane. This is particularly true for the mammalian gonadotropin-releasing hormone receptor GPCRs (GnRHR). We recently demonstrated that evo
Externí odkaz:
https://doaj.org/article/87e6dc4267994ade8aebd09e14ada9b5
Publikováno v:
PLoS ONE, Vol 19, Iss 1, p e0297560 (2024)
Variants in the cystic fibrosis transmembrane conductance regulator gene (CFTR) result in cystic fibrosis-a lethal autosomal recessive disorder. Missense variants that alter a single amino acid in the CFTR protein are among the most common cystic fib
Externí odkaz:
https://doaj.org/article/d9b8d3609c484310a0dc18ddebc2180b
Autor:
Charles P. Kuntz, Hope Woods, Andrew G. McKee, Nathan B. Zelt, Jeffrey L. Mendenhall, Jens Meiler, Jonathan P. Schlebach
Publikováno v:
Biophysical Journal. 121:2712-2720
Missense mutations that compromise the plasma membrane expression (PME) of integral membrane proteins are the root cause of numerous genetic diseases. Differentiation of this class of mutations from those that specifically modify the activity of the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d31b0e9900451652d526bd8367b3170
https://doi.org/10.1016/j.bpj.2022.06.018
https://doi.org/10.1016/j.bpj.2022.06.018
Autor:
Andrew G. McKee, Eli F. McDonald, Wesley D. Penn, Charles P. Kuntz, Karen Noguera, Laura M. Chamness, Francis J. Roushar, Jens Meiler, Kathryn E. Oliver, Lars Plate, Jonathan P. Schlebach
Cystic fibrosis (CF) is a chronic genetic disease caused by mutations that compromise the expression and/ or function of the cystic fibrosis transmembrane conductance regulator chloride channel (CFTR). Most people with CF harbor a common misfolded CF
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d7584e1d85192eff5486f78007991047
https://doi.org/10.1101/2022.10.14.512300
https://doi.org/10.1101/2022.10.14.512300
Autor:
Francis J. Roushar, Andrew G. McKee, Charles P. Kuntz, Joseph T. Ortega, Wesley D. Penn, Hope Woods, Laura M. Chamness, Victoria Most, Jens Meiler, Beata Jastrzebska, Jonathan P. Schlebach
Over 100 mutations in the rhodopsin gene have been linked to a spectrum of retinopathies that include retinitis pigmentosa and congenital stationary night blindness. Though most of these variants exhibit a loss of function, the molecular defects caus
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::8b3e64c2136852a74992b2808a73cff3
https://doi.org/10.1101/2022.03.01.482516
https://doi.org/10.1101/2022.03.01.482516
Autor:
Robert Saldivar, Julia Koehler Leman, Sheng Chen, Jonathan P. Schlebach, Martin D. Salazar, Charles P. Kuntz, Nathan B. Zelt, Richard Bonneau, Wesley D. Penn
Publikováno v:
Biochemistry. 59:1367-1377
More than 80 loss-of-function (LOF) mutations in the SLC6A8 creatine transporter (hCRT1) are responsible for cerebral creatine deficiency syndrome (CCDS), which gives rise to a spectrum of neurological defects, including intellectual disability, epil
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3a28a56c1d6eba714e2a2473cf197330
https://doi.org/10.1021/acs.biochem.9b00956
https://doi.org/10.1021/acs.biochem.9b00956
Autor:
Charles P. Kuntz, Hope Woods, Andrew G. McKee, Nathan B. Zelt, Jeffrey L. Mendenhall, Jens Meiler, Jonathan P. Schlebach
Missense mutations that compromise the plasma membrane expression (PME) of integral membrane proteins (MPs) are the root cause of numerous genetic diseases. Differentiation of this class of mutations from those that specifically modify the activity o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::82d6cb4f8e6d7691ea6cbbe1d8ebfe27
https://doi.org/10.1101/2021.12.28.474371
https://doi.org/10.1101/2021.12.28.474371
Autor:
John A. Capra, Justin T. Marinko, Charles R. Sanders, Jonathan P. Schlebach, Hui Huang, Wesley D. Penn
Publikováno v:
Chemical Reviews. 119:5537-5606
[Image: see text] Advances over the past 25 years have revealed much about how the structural properties of membranes and associated proteins are linked to the thermodynamics and kinetics of membrane protein (MP) folding. At the same time biochemical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5403f41cc236d81b82dc3da9f454271e
https://doi.org/10.1021/acs.chemrev.8b00532
https://doi.org/10.1021/acs.chemrev.8b00532
Autor:
Jens Meiler, Jonathan P. Schlebach, Wesley D. Penn, Beata Jastrzebska, Bian Li, Timothy C. Gruenhagen, Francis J. Roushar
Publikováno v:
Journal of the American Chemical Society. 141:204-215
Membrane proteins are prone to misfolding and degradation within the cell, yet the nature of the conformational defects involved in this process remain poorly understood. The earliest stages of membrane protein folding are mediated by the Sec61 trans
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e63b2436991aa62cdef2a4f0b4761f97
https://doi.org/10.1021/jacs.8b08243
https://doi.org/10.1021/jacs.8b08243