Lack of prenylated proteins, autophagy impairment and apoptosis in SH-SY5Y neuronal cell model of mevalonate kinase deficiency
PM Tricarico, A Romeo, R Gratton, S Crovella… - Cellular Physiology and …, 2017 - karger.com
Abstract Background/Aims: Mevalonate Kinase Deficiency (MKD), is a hereditary disease
due to mutations in mevalonate kinase gene (MVK). MKD has heterogeneous clinical …
due to mutations in mevalonate kinase gene (MVK). MKD has heterogeneous clinical …
Evaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework and providing updates to the …
S Mohan, M Mayers, M Weaver, H Baudet… - Molecular genetics and …, 2023 - Elsevier
Peroxisomal disorders are heterogeneous in nature, with phenotypic overlap that is
indistinguishable without molecular testing. Newborn screening and gene sequencing for a …
indistinguishable without molecular testing. Newborn screening and gene sequencing for a …
Organic acidemias and disorders of fatty acid oxidation
J Vockley - Emery and Rimoin's Principles and Practice of Medical …, 2021 - Elsevier
Most organic acids derive from catabolism of amino acids or fats. Blocks in their metabolic
pathways lead to increased accumulation of the substrate of the deficient enzyme as well as …
pathways lead to increased accumulation of the substrate of the deficient enzyme as well as …
Genetics of Mevalonate Kinase Deficiency
GS Schulert - eLS, 2017 - Wiley Online Library
Mevalonate kinase deficiency (MKD) represents a spectrum of clinical phenotypes that result
from genetic variants in the MVK gene encoding mevalonate kinase. This spectrum ranges …
from genetic variants in the MVK gene encoding mevalonate kinase. This spectrum ranges …