Sökning: "BCS1L"

Hittade 2 avhandlingar innehållade ordet BCS1L.

1. 1. Mitochondrial dysfunction and the metabolism - studies on respiratory chain disorders

   Författare :Nikica Tomasic; Lund Pediatrik; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; mitochondria; mitochondrial disease; metabolism; complex III; BCS1L;

   Sammanfattning : Background: Mutations of the mitochondrial assembly factor BCS1L disrupt assembly and function of the respiratory chain complex III (CIII) and thereby result in energy deprivation. In GRACILE syndrome, the BCS1L mutation causes a liver disorder that leads to metabolic disturbances associated with severe growth restriction. LÄS MER

3. 2. Effect of experimental complex III deficiency on respiratory chain assembly and function

   Författare :Mina Davoudi; Lund Pediatrik; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES;

   Sammanfattning : The assembly of respiratory chain complexes in the mitochondrial inner membrane requires specific factors. Once assembled to form a mature functional complex, complex III (CIII) is a dimer consisting of two monomers, each with eleven subunits. LÄS MER