[HTML][HTML] Endoplasmic reticulum protein quality control failure in myelin disorders

VG Volpi, T Touvier, M D'Antonio - Frontiers in molecular …, 2017 - frontiersin.org
Reaching the correct three-dimensional structure is crucial for the proper function of a
protein. The endoplasmic reticulum (ER) is the organelle where secreted and …

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 …

Perturbed interactions of mutant proteolipid protein/DM20 with cholesterol and lipid rafts in oligodendroglia: implications for dysmyelination in spastic paraplegia

EM Krämer-Albers, K Gehrig-Burger… - Journal of …, 2006 - Soc Neuroscience
Missense mutations in the human PLP1 gene lead to dysmyelinating diseases with a broad
range of clinical severity, ranging from severe Pelizaeus–Merzbacher disease (PMD) to …

Myelinated, synapsing cultures of murine spinal cord – validation as an in vitro model of the central nervous system

CE Thomson, M McCulloch, A Sorenson… - European Journal of …, 2008 - Wiley Online Library
Research in central nervous system (CNS) biology and pathology requires in vitro models,
which, to recapitulate the CNS in vivo, must have extensive myelin and synapse formation …

PLP overexpression perturbs myelin protein composition and myelination in a mouse model of Pelizaeus‐Merzbacher disease

SA Karim, JA Barrie, MC McCulloch, P Montague… - Glia, 2007 - Wiley Online Library
Duplication of PLP1, an X‐linked gene encoding the major myelin membrane protein of the
human CNS, is the most frequent cause of Pelizaeus‐Merzbacher disease (PMD) …

Concise review: stem cell-based treatment of Pelizaeus-Merzbacher disease

MJ Osorio, DH Rowitch, P Tesar, M Wernig… - Stem Cells, 2017 - academic.oup.com
Pelizaeus-Merzbacher disease (PMD) is an X-linked disorder caused by mutation in the
proteolipid protein-1 (PLP1) gene, which encodes the proteolipid protein of myelinating …

Loss of lysophosphatidic acid receptor LPA1 alters oligodendrocyte differentiation and myelination in the mouse cerebral cortex

B García-Díaz, R Riquelme, I Varela-Nieto… - Brain Structure and …, 2015 - Springer
Lysophosphatidic acid (LPA) is an intercellular signaling lipid that regulates multiple cellular
functions, acting through specific G-protein coupled receptors (LPA 1–6). Our previous …

Axon–glial interaction in the CNS: what we have learned from mouse models of Pelizaeus–Merzbacher disease

FI Gruenenfelder, G Thomson, J Penderis… - Journal of …, 2011 - Wiley Online Library
In the central nervous system (CNS) the majority of axons are surrounded by a myelin
sheath, which is produced by oligodendrocytes. Myelin is a lipid‐rich insulating material that …

Rho regulates membrane transport in the endocytic pathway to control plasma membrane specialization in oligodendroglial cells

A Kippert, K Trajkovic, L Rajendran, J Ries… - Journal of …, 2007 - Soc Neuroscience
Differentiation of oligodendrocytes is associated with dramatic changes in plasma
membrane structure, culminating in the formation of myelin membrane sheaths. Previous …