The PMP22 Gene and Its Related Diseases

J Li, B Parker, C Martyn, C Natarajan, J Guo - Molecular neurobiology, 2013 - Springer
Abstract Peripheral myelin protein-22 (PMP22) is primarily expressed in the compact myelin
of the peripheral nervous system. Levels of PMP22 have to be tightly regulated since …

Myelin synthesis in the peripheral nervous system

B Garbay, AM Heape, F Sargueil, C Cassagne - Progress in neurobiology, 2000 - Elsevier
By imposing saltatory conduction on the nervous impulse, the principal role of the myelin
sheath is to allow the faster propagation of action potentials along the axons which it …

Schwann cells harbor the somatic NF1 mutation in neurofibromas: evidence of two different Schwann cell subpopulations

E Serra, T Rosenbaum, U Winner… - Human molecular …, 2000 - academic.oup.com
Neurofibromas are one of the most characteristic features of neurofibromatosis type 1 (NF1),
an inherited autosomal-dominant neurogenetic disorder affecting 1 in 3500 individuals …

Schwann cell development, differentiation and myelination

R Mirsky, KR Jessen - Current opinion in neurobiology, 1996 - Elsevier
Neu-differentiation factor (glial growth factor) has been established as an important regulator
of early Schwann cell development, and the lineage relationship between immature …

Progesterone synthesis and myelin formation in peripheral nerves

M Schumacher, R Guennoun, G Mercier… - Brain research …, 2001 - Elsevier
Progesterone is synthesized in the nervous system by neurons and glial cells. Because of
their simple structure, plasticity and capacity of regeneration, peripheral nerves are …

Neurons promote the translocation of peripheral myelin protein 22 into myelin

S Pareek, L Notterpek, GJ Snipes, R Naef… - Journal of …, 1997 - Soc Neuroscience
Schwann cells express low levels of myelin proteins in the absence of neurons. When
Schwann cells and neurons are cultured together the production of myelin proteins is …

P0 and PMP22 mark a multipotent neural crest-derived cell type that displays community effects in response to TGF-β family factors

L Hagedorn, U Suter, L Sommer - Development, 1999 - journals.biologists.com
Protein zero (P0) and peripheral myelin protein 22 (PMP22) are most prominently expressed
by myelinating Schwann cells as components of compact myelin of the peripheral nervous …

Genetic mechanisms of peripheral nerve disease

M Stavrou, I Sargiannidou, T Christofi, KA Kleopa - neuroscience letters, 2021 - Elsevier
Peripheral neuropathies of genetic etiology are a very diverse group of disorders
manifesting either as non-syndromic inherited neuropathies without significant …

Retroviral‐mediated gene transfer of the peripheral myelin protein PMP22 in Schwann cells: modulation of cell growth.

G Zoidl, S Blass‐Kampmann, D D'urso… - The EMBO …, 1995 - embopress.org
The peripheral myelin gene PMP22 is the rat and human homologue of the murine growth
arrest‐specific gene gas3. Besides a putative role of PMP22 in myelination, a regulatory …

Targeted PMP22 TATA-box editing by CRISPR/Cas9 reduces demyelinating neuropathy of Charcot-Marie-Tooth disease type 1A in mice

JS Lee, JY Lee, DW Song, HS Bae… - Nucleic Acids …, 2020 - academic.oup.com
Abstract Charcot-Marie-Tooth 1A (CMT1A) is the most common inherited neuropathy without
a known therapy, which is caused by a 1.4 Mb duplication on human chromosome 17, which …