Malte Loos
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View article: Human model of primary carnitine deficiency cardiomyopathy reveals ferroptosis as a novel mechanism
Human model of primary carnitine deficiency cardiomyopathy reveals ferroptosis as a novel mechanism Open
Primary carnitine deficiency (PCD) is an autosomal recessive monogenic disorder caused by mutations in SLC22A5. This gene encodes for OCTN2, which transports the essential metabolite carnitine into the cell. PCD patients suffer from muscul…
View article: Human model of primary carnitine deficiency cardiomyopathy reveals ferroptosis as a novel disease mechanism
Human model of primary carnitine deficiency cardiomyopathy reveals ferroptosis as a novel disease mechanism Open
Primary carnitine deficiency (PCD) is an autosomal recessive monogenic disorder caused by mutations in SLC22A5. This gene encodes for OCTN2 which transports the essential metabolite carnitine into the cell. PCD patients suffer from muscula…
View article: Generation of bi-allelic MYBPC3 truncating mutant and isogenic control from an iPSC line of a patient with hypertrophic cardiomyopathy
Generation of bi-allelic MYBPC3 truncating mutant and isogenic control from an iPSC line of a patient with hypertrophic cardiomyopathy Open
MYBPC3 is the most frequently affected gene in hypertrophic cardiomyopathy (HCM), which is an autosomal-dominant cardiac disease caused by mutations in sarcomeric proteins. Bi-allelic truncating MYBPC3 mutations are associated with severe …
View article: Impairment of the ER/mitochondria compartment in human cardiomyocytes with PLN p.Arg14del mutation
Impairment of the ER/mitochondria compartment in human cardiomyocytes with PLN p.Arg14del mutation Open
The phospholamban (PLN) p.Arg14del mutation causes dilated cardiomyopathy, with the molecular disease mechanisms incompletely understood. Patient dermal fibroblasts were reprogrammed to hiPSC, isogenic controls were established by CRISPR/C…
View article: Cell Banking of hiPSCs: A Practical Guide to Cryopreservation and Quality Control in Basic Research
Cell Banking of hiPSCs: A Practical Guide to Cryopreservation and Quality Control in Basic Research Open
The reproducibility of stem cell research relies on the constant availability of quality‐controlled cells. As the quality of human induced pluripotent stem cells (hiPSCs) can deteriorate in the course of a few passages, cell banking is key…