Metabolism and functions of lipids in myelin

S Schmitt, LC Castelvetri, M Simons - … (BBA)-Molecular and Cell Biology of …, 2015 - Elsevier
Rapid conduction of nerve impulses requires coating of axons by myelin sheaths, which are
lipid-rich and multilamellar membrane stacks. The lipid composition of myelin varies …

Genetics of 46, XY gonadal dysgenesis

M Elzaiat, K McElreavey, A Bashamboo - Best Practice & Research Clinical …, 2022 - Elsevier
In 46, XY men, testis is determined by a genetic network (s) that both promotes testis
formation and represses ovarian development. Disruption of this process results in a lack of …

Immunological markers for central nervous system glia

H Huang, W He, T Tang, M Qiu - Neuroscience Bulletin, 2023 - Springer
Glial cells in the central nervous system (CNS) are composed of oligodendrocytes,
astrocytes and microglia. They contribute more than half of the total cells of the CNS, and are …

Mutant huntingtin downregulates myelin regulatory factor-mediated myelin gene expression and affects mature oligodendrocytes

B Huang, WJ Wei, G Wang, MA Gaertig, Y Feng… - Neuron, 2015 - cell.com
Growing evidence indicates that non-neuronal mutant huntingtin toxicity plays an important
role in Huntington's disease (HD); however, whether and how mutant huntingtin affects …

Using the lineage determinants Olig2 and Sox10 to explore transcriptional regulation of oligodendrocyte development

E Sock, M Wegner - Developmental neurobiology, 2021 - Wiley Online Library
The transcription factors Olig2 and Sox10 jointly define oligodendroglial identity. Because of
their continuous presence during development and in the differentiated state they shape the …

De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders

H Qi, L Yu, X Zhou, J Wynn, H Zhao, Y Guo, N Zhu… - PLoS …, 2018 - journals.plos.org
Congenital diaphragmatic hernia (CDH) is a severe birth defect that is often accompanied by
other congenital anomalies. Previous exome sequencing studies for CDH have supported a …

Synaptogenesis: unmasking molecular mechanisms using Caenorhabditis elegans

K Mizumoto, Y Jin, JL Bessereau - Genetics, 2023 - academic.oup.com
The nematode Caenorhabditis elegans is a research model organism particularly suited to
the mechanistic understanding of synapse genesis in the nervous system. Armed with …

Myrf guides target gene selection of transcription factor Sox10 during oligodendroglial development

J Aprato, E Sock, M Weider, O Elsesser… - Nucleic acids …, 2020 - academic.oup.com
Oligodendrocytes generate myelin in the vertebrate central nervous system and thus ensure
rapid propagation of neuronal activity. Their development is controlled by a network of …

The nuclear transportation routes of membrane-bound transcription factors

Y Liu, P Li, L Fan, M Wu - Cell Communication and Signaling, 2018 - Springer
Membrane-bound transcription factors (MTFs) are transcription factors (TFs) that are
anchored in membranes in a dormant state. Activated by external or internal stimuli, MTFs …

Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice

SJ Garnai, ML Brinkmeier, B Emery, TS Aleman… - PLoS …, 2019 - journals.plos.org
Nanophthalmos is a rare, potentially devastating eye condition characterized by small eyes
with relatively normal anatomy, a high hyperopic refractive error, and frequent association …