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Study investigated the clinical manifestation in Korean patients with ADSSL1 mutations. Patients with ADSSL1 mutations demonstrated distal muscle weakness in adolescence, followed by quadriceps muscle weakness in the early 30s. All patients had mild facial weakness and two patients complained of easy fatigue while eating and chewing. Muscle biopsies and whole body muscle MR imaging findings are discussed.
Mutations in ADSSL1 are the novel genetic cause of autosomal recessive adolescent onset distal myopathy.
A novel muscle isozyme of adenylosuccinate synthetase (zeige ADSS Antikörper), human AdSSL1, is identified from human bone marrow stromal cells.
Adss1 functions as an important component in adenine nucleotide biosynthesis. It is up-regulated in surgically induced cardiomegaly.
there are antagonistic interactions between the active sites of the basic isozyme of adenylosuccinate synthetase (zeige ADSS Antikörper)
The absence of the 2'-hydroxyl group of the deoxyribonucleotide destabilizes binding of the ligand to the L-aspartate pocket of adenylosuccinate synthetase (zeige ADSS Antikörper) by disrupting hydrogen bonds and by introducing a cavity into the fully ligated active site.
Deletion of Adenylosuccinate synthetase (zeige ADSS Antikörper) 1 gene is associated with lung adenocarcinoma.
ADSSL1 is a muscle isozyme of adenylosuccinate synthase (EC 126.96.36.199), which catalyzes the initial reaction in the conversion of inosine monophosphate (IMP) to adenosine monophosphate (AMP) (Sun et al., 2005
adenylosuccinate synthetase isozyme 1 B
, AdSS 1 B
, AMPSase 1 B
, IMP--aspartate ligase 1 B
, M-type adenylosuccinate synthetase B
, Adenylosuccinate synthetase, basic isozyme B
, Adenylosuccinate synthetase, muscle isozyme B
, adenylosuccinate synthetase isozyme 1
, AdSS 1
, AMPSase 1
, IMP--aspartate ligase 1
, M-type adenylosuccinate synthetase
, Adenylosuccinate synthetase, basic isozyme
, Adenylosuccinate synthetase, muscle isozyme
, adenylosuccinate synthase-like 1
, adenylosuccinate synthase like 1
, adenylosuccinate synthetase isozyme 1-like
, adenylosuccinate synthetase, basic isozyme
, adenylosuccinate synthetase, muscle isozyme
, AMPSase 1 A
, AdSS 1 A
, Adenylosuccinate synthetase, basic isozyme A
, Adenylosuccinate synthetase, muscle isozyme A
, IMP--aspartate ligase 1 A
, M-type adenylosuccinate synthetase A
, adenylosuccinate synthetase isozyme 1 A
, adSS 1
, adenylosuccinate synthetase 1, muscle