Riboflavin deficiency—implications for general human health and inborn errors of metabolism

S Mosegaard, G Dipace, P Bross, J Carlsen… - International Journal of …, 2020 - mdpi.com
As an essential vitamin, the role of riboflavin in human diet and health is increasingly being
highlighted. Insufficient dietary intake of riboflavin is often reported in nutritional surveys and …

Riboflavin in neurological diseases: a narrative review

D Plantone, M Pardini, G Rinaldi - Clinical Drug Investigation, 2021 - Springer
Riboflavin is classified as one of the water-soluble B vitamins. It is part of the functional
group of flavin mononucleotide (FMN) and flavin adenine dinucleotide (FAD) cofactors and …

Innovative strategies to treat protein misfolding in inborn errors of metabolism: pharmacological chaperones and proteostasis regulators

AC Muntau, J Leandro, M Staudigl, F Mayer… - Journal of inherited …, 2014 - Springer
To attain functionality, proteins must fold into their three-dimensional native state. The
intracellular balance between protein synthesis, folding, and degradation is constantly …

Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

BM Repp, E Mastantuono, CL Alston, M Schiff… - Orphanet journal of rare …, 2018 - Springer
Abstract Background Mitochondrial acyl-CoA dehydrogenase family member 9 (ACAD9) is
essential for the assembly of mitochondrial respiratory chain complex I. Disease causing …

Protein misfolding diseases: prospects of pharmacological treatment

A Gámez, P Yuste‐Checa, S Brasil… - Clinical …, 2018 - Wiley Online Library
Protein misfolding has been linked to numerous inherited diseases. Loss‐and gain‐of‐
function mutations (common features of genetic diseases) may cause the destabilization of …

Metabolic therapy of heart failure: Is there a future for B vitamins?

J Piquereau, SE Boitard, R Ventura-Clapier… - International Journal of …, 2021 - mdpi.com
Heart failure (HF) is a plague of the aging population in industrialized countries that
continues to cause many deaths despite intensive research into more effective treatments …

Biosynthesis of flavin cofactors in man: implications in health and disease

M Barile, T Anna Giancaspero, C Brizio… - Current …, 2013 - ingentaconnect.com
The primary role of the water-soluble vitamin B2, ie riboflavin, in cell biology is connected
with its conversion into FMN and FAD, the cofactors of a large number of dehydrogenases …

[HTML][HTML] FAD binding overcomes defects in activity and stability displayed by cancer-associated variants of human NQO1

AL Pey, CF Megarity, DJ Timson - … Acta (BBA)-Molecular Basis of Disease, 2014 - Elsevier
Abstract NAD (P) H quinone oxidoreductase 1 is involved in antioxidant defence and
protection from cancer, stabilizing the apoptosis regulator p53 towards degradation. Here …

Pathophysiology of fatty acid oxidation disorders and resultant phenotypic variability

SE Olpin - Journal of inherited metabolic disease, 2013 - Springer
Fatty acids are a major fuel for the body and fatty acid oxidation is particularly important
during fasting, sustained aerobic exercise and stress. The myocardium and resting skeletal …

ACAD9, a complex I assembly factor with a moonlighting function in fatty acid oxidation deficiencies

J Nouws, H Te Brinke, LG Nijtmans… - Human molecular …, 2014 - academic.oup.com
Oxidative phosphorylation and fatty acid oxidation are two major metabolic pathways in
mitochondria. Acyl-CoA dehydrogenase 9 (ACAD9), an enzyme assumed to play a role in …