[HTML][HTML] Myelin in the central nervous system: structure, function, and pathology

C Stadelmann, S Timmler… - Physiological …, 2019 - journals.physiology.org
Oligodendrocytes generate multiple layers of myelin membrane around axons of the central
nervous system to enable fast and efficient nerve conduction. Until recently, saltatory nerve …

Cholesterol in myelin biogenesis and hypomyelinating disorders

G Saher, SK Stumpf - Biochimica Et Biophysica Acta (BBA)-Molecular and …, 2015 - Elsevier
The largest pool of free cholesterol in mammals resides in myelin membranes. Myelin
facilitates rapid saltatory impulse propagation by electrical insulation of axons. This function …

Endoplasmic reticulum stress in disorders of myelinating cells

W Lin, B Popko - Nature neuroscience, 2009 - nature.com
Myelinating cells, oligodendrocytes in the CNS and Schwann cells in the peripheral nervous
system produce an enormous amount of plasma membrane during the myelination process …

[HTML][HTML] Membrane protein misassembly in disease

DP Ng, BE Poulsen, CM Deber - Biochimica et Biophysica Acta (BBA) …, 2012 - Elsevier
Helix–helix interactions play a central role in the folding and assembly of integral α-helical
membrane proteins and are fundamentally dictated by the amino acid sequence of the TM …

Defining the mitochondrial proteomes from five rat organs in a physiologically significant context using 2D blue-native/SDS-PAGE

NH Reifschneider, S Goto, H Nakamoto… - Journal of proteome …, 2006 - ACS Publications
In accordance with their manifold tasks, various dysfunctions of mitochondria are critically
involved in a large number of diseases and the aging process. This has inspired …

Human myelin proteolipid protein structure and lipid bilayer stacking

S Ruskamo, A Raasakka, JS Pedersen… - Cellular and Molecular …, 2022 - Springer
The myelin sheath is an essential, multilayered membrane structure that insulates axons,
enabling the rapid transmission of nerve impulses. The tetraspan myelin proteolipid protein …

The role of neuronal complexes in human X-linked brain diseases

F Laumonnier, PC Cuthbert, SGN Grant - The American Journal of Human …, 2007 - cell.com
Beyond finding individual genes that are involved in medical disorders, an important
challenge is the integration of sets of disease genes with the complexities of basic biological …

Neurogenetics of Pelizaeus–Merzbacher disease

MJ Osório, SA Goldman - Handbook of clinical neurology, 2018 - Elsevier
Pelizaeus–Merzbacher disease (PMD) is an X-linked disorder caused by mutations in the
PLP1 gene, which encodes the proteolipid protein of myelinating oligodendroglia. PMD …

The molecular and cellular defects underlying Pelizaeus–Merzbacher disease

KJ Woodward - Expert reviews in molecular medicine, 2008 - cambridge.org
Pelizaeus–Merzbacher disease (PMD) is a recessive X-linked dysmyelinating disorder of
the central nervous system (CNS). The most frequent cause of PMD is a genomic duplication …

Pelizaeus-Merzbacher disease: molecular and cellular pathologies and associated phenotypes

K Inoue - Myelin: Basic and Clinical Advances, 2019 - Springer
Pelizaeus-Merzbacher disease (PMD) represents a group of disorders known as
hypomyelinating leukodystrophies, which are characterized by abnormal development and …