Ontology highlight
ABSTRACT:
SUBMITTER: Lee JS
PROVIDER: S-EPMC7145652 | biostudies-literature | 2020 Jan
REPOSITORIES: biostudies-literature
Lee Ji-Su JS Lee Jae Y JY Song Dong W DW Bae Hee S HS Doo Hyun M HM Yu Ho S HS Lee Kyu J KJ Kim Hee K HK Hwang Hyun H Kwak Geon G Kim Daesik D Kim Seokjoong S Hong Young B YB Lee Jung M JM Choi Byung-Ok BO
Nucleic acids research 20200101 1
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 includes the gene encoding the peripheral myelin protein of 22 kDa (PMP22). Overexpressed PMP22 protein from its gene duplication is thought to cause demyelination and subsequently axonal degeneration in the peripheral nervous system (PNS). Here, we targeted TATA-box of human PMP22 promoter to normalize overexpressed PMP22 level in ...[more]