Article
The topology, structure and PE interaction of LITAF underpin a Charcot-Marie-Tooth disease type 1C.
BMC biology - 7 Dec 2016
Ho Anita K, Wagstaff Jane L, Manna Paul T, Wartosch Lena, Qamar Seema, Garman Elspeth F, Freund Stefan M V, Roberts Rhys C
Abstract excerpt
BACKGROUND: Mutations in Lipopolysaccharide-induced tumour necrosis factor-α factor (LITAF) cause the autosomal dominant inherited peripheral neuropathy, Charcot-Marie-Tooth disease type 1C (CMT1C). LITAF encodes a 17 kDa protein containing an N-terminal proline-rich region followed by an evolutionarily-conserved C-terminal 'LITAF domain', which contains all reported CMT1C-associated pathogenic mutations....
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