The multidomain protein encoded by the Tumor Susceptibility Gene 101 (TSG101) is
ubiquitously expressed and is suggested to function in diverse intracellular processes. In …

Ubiquitination is a versatile and dynamic post-translational modification in which single
ubiquitin molecules or polyubiquitin chains are attached to target proteins, giving rise to …

Charcot-Marie-Tooth (CMT) disease is a progressive, peripheral neuropathy and the most
commonly inherited neurological disorder. Clinical manifestations of CMT mutations are …

Objective To test the hypothesis that monogenic neuropathies such as Charcot-Marie-Tooth
disease (CMT) contribute to frequent but often unexplained neuropathies in the elderly, we …

The neuronal ceroid lipofuscinoses (NCLs), also known as Batten disease, are a group of
autosomal recessive lysosomal storage disorders that are characterized by …

SUMMARY Charcot-Marie-Tooth disease (CMT) is a clinically and genetically
heterogeneous condition characterized by peripheral axon degeneration with subsequent …

In the past decade, mutations in LRSAM1 were identified as the genetic cause of both
dominant and recessive forms of axonal CMT type 2P (CMT2P). Despite demonstrating …

Objective Charcot–Marie–Tooth type 2P (CMT2P) has been associated with frameshift
mutations in the RING domain of LRSAM1 (an E3 ligase). This study describes families with …

Background Charcot–Marie–Tooth disease (CMT) is a genetically and clinically
heterogeneous group of inherited neuropathies. Monoallelic pathogenic variants in ATP1A1 …

LRSAM1 mutations have been found in recessive and dominant forms of C harcot–M arie–T
ooth disease. Within one generation of the original D utch family in which the dominant …