Tag Archives: genetic disease
FINDbase worldwide database for clinically relevant genomic variation allele frequencies
National and Ethnic Genomic Databases comprise a well-defined niche of genomic databases, aiming to record the prevalence of alleles, mainly pathogenic and of clinical relevance, but also benign, in different populations and ethnic groups worldwide in a
Discovery of Bag3-P209L signaling mechanism brings hope for therapeutic options currently in development
Myofibrillar myopathy (MFM) is a group of rare genetic disorders that cause both skeletal and cardiac muscle weakness. Mutations in the Bcl2-associated Athanogene 3 (Bag3) protein, highly expressed in striated muscle, are reported to cause a particularly
Understanding the rare disease alkaptonuria: the role of oxidative stress, inflammation and amyloidosis
Alkaptonuria (AKU) is an ultra-rare disease that was recognized among the first inborn errors of metabolism. In AKU, an altered activity of the enzyme homogentisate 1,2-dioxygenase (HGD) occurring upon gene mutation lead to a defective metabolism of
