Search Results - "Marinko, Justin T."
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Folding and Misfolding of Human Membrane Proteins in Health and Disease: From Single Molecules to Cellular Proteostasis
Published in Chemical reviews (08-05-2019)“…Advances over the past 25 years have revealed much about how the structural properties of membranes and associated proteins are linked to the thermodynamics…”
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Peripheral myelin protein 22 alters membrane architecture
Published in Science advances (01-07-2017)“…Peripheral myelin protein 22 (PMP22) is highly expressed in myelinating Schwann cells of the peripheral nervous system. genetic alterations cause the most…”
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Peripheral myelin protein 22 preferentially partitions into ordered phase membrane domains
Published in Proceedings of the National Academy of Sciences - PNAS (23-06-2020)“…The ordered environment of cholesterol-rich membrane nanodomains is thought to exclude many transmembrane (TM) proteins. Nevertheless, some multispan helical…”
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Direct relationship between increased expression and mistrafficking of the Charcot–Marie–Tooth–associated protein PMP22
Published in The Journal of biological chemistry (21-08-2020)“…Charcot–Marie–Tooth disease (CMT) is a neuropathy of the peripheral nervous system that afflicts ∼1:2500 people. The most common form of this disease (CMT1A,…”
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How T118M peripheral myelin protein 22 predisposes humans to Charcot–Marie–Tooth disease
Published in The Journal of biological chemistry (01-02-2023)“…Data from gnomAD indicate that a missense mutation encoding the T118M variation in human peripheral myelin protein 22 (PMP22) is found in roughly one of every…”
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Reply to Record et al. “The role of PMP22 T118M in Charcot–Marie–Tooth disease remains unsolved”
Published in The Journal of biological chemistry (01-10-2023)Get full text
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Glycosylation limits forward trafficking of the tetraspan membrane protein PMP22
Published in The Journal of biological chemistry (01-01-2021)“…Peripheral myelin protein 22 (PMP22) folds and trafficks inefficiently, with only 20% of newly expressed protein trafficking to the cell surface. This behavior…”
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Direct relationship between increased expression and mistrafficking of the Charcot-Marie-Tooth-associated protein PMP22
Published in The Journal of biological chemistry (21-08-2020)“…Charcot-Marie-Tooth disease (CMT) is a neuropathy of the peripheral nervous system that afflicts ∼1:2500 people. The most common form of this disease (CMT1A,…”
Get full text
Journal Article