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A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype

Zafar Iqbal
Mohsin Shahzad
Sheikh Riazuddin
Research19 Dec 2012
European Journal of Human Genetics

Volume: 21, P: 844-849
Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness

Ron Wevers, Saskia Wortmann and colleagues show that mutations in SERAC1 cause a recessive syndrome characterized by deafness, encephalopathy, progressive spasticity and dystonia. Their findings suggest a role for SERAC1 in phosphatidylglycerol remodeling and intracellular cholesterol trafficking.

Saskia B Wortmann
Frédéric M Vaz
Arjan P M de Brouwer
Research10 Jun 2012
Nature Genetics

Volume: 44, P: 797-802
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

Hans van Bokhoven and colleagues report mutations in the ISPD gene as a cause of Walker-Warburg syndrome. Knockdown of ispd in zebrafish causes hydrocephalus, reduced eye size, muscle degeneration and α-dystroglycan hypoglycosylation.

Tony Roscioli
Erik-Jan Kamsteeg
Hans van Bokhoven
Research22 Apr 2012
Nature Genetics

Volume: 44, P: 581-585
Neuromuscular control in males and females 1 year after an anterior cruciate ligament rupture or reconstruction during stair descent and artificial tibial translation

Angela Blasimann
Aglaja Busch
Heiner Baur
ResearchOpen Access15 Sept 2023
Scientific Reports

Volume: 13, P: 1-13

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A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

Neuromuscular control in males and females 1 year after an anterior cruciate ligament rupture or reconstruction during stair descent and artificial tibial translation

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A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness

Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan

Neuromuscular control in males and females 1 year after an anterior cruciate ligament rupture or reconstruction during stair descent and artificial tibial translation

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