Autophagy is a degradative pathway that is conserved from yeast to mammals. Marcoautophagy is characterized by the formation of a unique double-membrane layered vesicle, the so-called autophagosome. Proteins and organelles ...
CHARGE syndrome is a complex congenital malformation disorder, caused in more about two-thirds of the cases by heterozygous loss of function mutations in the chromodomain helicase DNA-binding protein 7 (CHD7). The acronym ...
Cutaneous squamous cell carcinoma (cSCC) is the second most common non-melanoma skin tumor in humans with increasing incidence. cSCC is a result of malignant transformation of epidermal cells with ultraviolet (UV) radiation ...
Multiple sclerosis (MS) is one of the most common causes of persisting disability in young adults. Its clinical course can be heterogeneous with a varying extent of inflammatory central nervous system (CNS) lesions, ...
Dysferlinopathies are a heterogeneous group of congenital muscle disorders characterized by late-onset muscular dystrophy and increased muscle prowess before onset of symptoms. Mutations in the DYSF gene encoding the protein ...