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 …

Inherited neuropathies are caused by dominant or recessive mutations in genes that are
expressed by neurons and/or Schwann cells. In demyelinating neuropathies, the deleterious …

The p53 tumor suppressor activates either cell cycle arrest or apoptosis in response to
cellular stress. Mouse embryo fibroblasts (MEFs) provide a powerful primary cell system to …

Abstract Charcot-Marie-Tooth disease (CMT) is the most common inherited neuropathy in
humans and has been associated with a partial duplication of chromosome 17 (CMT type …

An intrachromosomal duplication containing the PMP22 gene is associated with the human
hereditary peripheral neuropathy Charcot-Marie-Tooth disease type 1A, and PMP22 …

We review the putative functions and malfunctions of proteins encoded by genes mutated in
Charcot-Marie-Tooth disease (CMT; inherited motor and sensory neuropathies) in normal …

The binding of extracellular ATP to the P2X 7 receptor opens an integral cation-permeable
channel; it also leads to membrane blebbing and, in certain immune cells, interleukin-1β …

Over the last 15 years, a number of mutations in a variety of genes have been identified that
lead to inherited motor and sensory neuropathies (HMSN), also called Charcot‐Marie‐Tooth …

Abstract Charcot-Marie-Tooth disease type 1A is most commonly caused by a duplication of
a 1.5 Mb region of chromosome 17 which includes the peripheral myelin protein 22 gene …

Gas2, a component of the microfilament system, belongs to the class of gas genes whose
expression is induced at growth arrest. After serum or growth factor addition to quiescent …