-
Chapter and Conference Paper
Research on Measurement Method of Adaptive Driving Beam
In recent years, adaptive driving beam has become a development trend of automobile headlight, which does not dazzle the drivers of other vehicles, and at the same time guarantees the effect of driving beam to...
-
Article
Open AccessCorrection to: Nationwide genetic testing towards eliminating Lafora disease from Miniature Wirehaired Dachshunds in the United Kingdom
-
Article
Open AccessMultiomic elucidation of a coding 99-mer repeat-expansion skeletal muscle disease
-
Article
Open AccessNationwide genetic testing towards eliminating Lafora disease from Miniature Wirehaired Dachshunds in the United Kingdom
Canine DNA-testing has become an important tool in purebred dog breeding and many breeders use genetic testing results when planning their breeding strategies. In addition, information obtained from testing of...
-
Article
Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene
Guanidinoacetate methyltransferase (GAMT) deficiency is a neurodegenerative disease. Although no symptomatic patients on treatment achieved normal neurodevelopment, three asymptomatic newborns were reported wi...
-
Article
Laforin Prevents Stress-Induced Polyglucosan Body Formation and Lafora Disease Progression in Neurons
Glycogen, the largest cytosolic macromolecule, is soluble because of intricate construction generating perfect hydrophilic-surfaced spheres. Little is known about neuronal glycogen function and metabolism, tho...
-
Article
VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy
X-linked Myopathy with Excessive Autophagy (XMEA) is a childhood onset disease characterized by progressive vacuolation and atrophy of skeletal muscle. We show that XMEA is caused by hypomorphic alleles of the VM...
-
Article
Open AccessHydrogen peroxide stimulates nuclear import of the POU homeodomain protein Oct-1 and its repressive effect on the expression of Cdx-2
The ubiquitously expressed POU homeodomain protein Oct-1 serves as a sensor for stress induced by irradiation. We found recently that in pancreatic and intestinal endocrine cells, Oct-1 also functions as a sen...
