Protein misfolding and human disease
Protein misfolding is a common event in living cells. In young and healthy cells, the
misfolded protein load is disposed of by protein quality control (PQC) systems. In aging cells …
misfolded protein load is disposed of by protein quality control (PQC) systems. In aging cells …
Disorders of mitochondrial fatty acyl‐CoA β‐oxidation
RJA Wanders, P Vreken, MEJ Den Boer… - Journal of inherited …, 1999 - Wiley Online Library
In recent years tremendous progress has been made with respect to the enzymology of the
mitochondrial fatty acid β‐oxidation machinery and defects therein. Firstly, a number of new …
mitochondrial fatty acid β‐oxidation machinery and defects therein. Firstly, a number of new …
Whole-genome sequencing identifies common-to-rare variants associated with human blood metabolites
T Long, M Hicks, HC Yu, WH Biggs, EF Kirkness… - Nature …, 2017 - nature.com
Genetic factors modifying the blood metabolome have been investigated through genome-
wide association studies (GWAS) of common genetic variants and through exome …
wide association studies (GWAS) of common genetic variants and through exome …
A genome-wide perspective of genetic variation in human metabolism
Serum metabolite concentrations provide a direct readout of biological processes in the
human body, and they are associated with disorders such as cardiovascular and metabolic …
human body, and they are associated with disorders such as cardiovascular and metabolic …
Tandem mass spectrometric analysis for amino, organic, and fatty acid disorders in newborn dried blood spots: a two-year summary from the New England Newborn …
TH Zytkovicz, EF Fitzgerald, D Marsden… - Clinical …, 2001 - academic.oup.com
Background: Tandem mass spectrometry (MS/MS) is rapidly being adopted by newborn
screening programs to screen dried blood spots for> 20 markers of disease in a single …
screening programs to screen dried blood spots for> 20 markers of disease in a single …
Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy
Ethylmalonic encephalopathy is an autosomal recessive, invariably fatal disorder
characterized by early-onset encephalopathy, microangiopathy, chronic diarrhea, defective …
characterized by early-onset encephalopathy, microangiopathy, chronic diarrhea, defective …
Clear correlation of genotype with disease phenotype in very–long-chain Acyl-CoA dehydrogenase deficiency
BS Andresen, S Olpin, BJHM Poorthuis… - The American Journal of …, 1999 - cell.com
Very–long-chain acyl-CoA dehydrogenase (VLCAD) catalyzes the initial rate-limiting step in
mitochondrial fatty acid β-oxidation. VLCAD deficiency is clinically heterogenous, with three …
mitochondrial fatty acid β-oxidation. VLCAD deficiency is clinically heterogenous, with three …
Genetic variation in an individual human exome
There is much interest in characterizing the variation in a human individual, because this
may elucidate what contributes significantly to a person's phenotype, thereby enabling …
may elucidate what contributes significantly to a person's phenotype, thereby enabling …
Carnitine homeostasis, mitochondrial function and cardiovascular disease
Carnitines are involved in mitochondrial transport of fatty acids and are of critical importance
for maintaining normal mitochondrial function. This review summarizes recent experimental …
for maintaining normal mitochondrial function. This review summarizes recent experimental …
Protein misfolding and degradation in genetic diseases
Investigations of genetic diseases such as cystic fibrosis, α‐1‐antitrypsin deficiency,
phenylketonuria, mitochondrial acyl‐CoA dehydrogenase deficiencies, and many others …
phenylketonuria, mitochondrial acyl‐CoA dehydrogenase deficiencies, and many others …