[HTML][HTML] Discoveries, metabolic roles and diseases of mitochondrial carriers: a review
F Palmieri, M Monné - Biochimica et Biophysica Acta (BBA)-Molecular Cell …, 2016 - Elsevier
Mitochondrial carriers (MCs) are a superfamily of nuclear-encoded proteins that are mostly
localized in the inner mitochondrial membrane and transport numerous metabolites …
localized in the inner mitochondrial membrane and transport numerous metabolites …
Mitochondrial transporters of the SLC25 family and associated diseases: a review
F Palmieri - Journal of inherited metabolic disease, 2014 - Springer
To date, 14 inherited diseases (including phenotypes) associated to mitochondrial
transporters of the SLC25 family have been well characterized biochemically and …
transporters of the SLC25 family have been well characterized biochemically and …
Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review
In the 1980s, after the mitochondrial DNA (mtDNA) had been sequenced, several diseases
resulting from mtDNA mutations emerged. Later, numerous disorders caused by mutations …
resulting from mtDNA mutations emerged. Later, numerous disorders caused by mutations …
Yeast as a system for modeling mitochondrial disease mechanisms and discovering therapies
Mitochondrial diseases are severe and largely untreatable. Owing to the many essential
processes carried out by mitochondria and the complex cellular systems that support these …
processes carried out by mitochondria and the complex cellular systems that support these …
[HTML][HTML] AGC1/2, the mitochondrial aspartate-glutamate carriers
ND Amoedo, G Punzi, E Obre, D Lacombe… - … et Biophysica Acta (BBA …, 2016 - Elsevier
In this review we discuss the structure and functions of the aspartate/glutamate carriers
(AGC1-aralar and AGC2-citrin). Those proteins supply the aspartate synthesized within …
(AGC1-aralar and AGC2-citrin). Those proteins supply the aspartate synthesized within …
Aminoacidopathies: prevalence, etiology, screening, and treatment options
Inborn errors of metabolism (IEMs) are a group of inherited metabolic disorders which are
caused by mutations in the specific genes that lead to impaired proteins or enzymes …
caused by mutations in the specific genes that lead to impaired proteins or enzymes …
The hyperornithinemia–hyperammonemia-homocitrullinuria syndrome
D Martinelli, D Diodato, E Ponzi, M Monné… - Orphanet journal of rare …, 2015 - Springer
Background Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a
rare autosomal recessive disorder of the urea cycle. HHH has a panethnic distribution, with …
rare autosomal recessive disorder of the urea cycle. HHH has a panethnic distribution, with …
Mitochondrial carriers for aspartate, glutamate and other amino acids: A review
Members of the mitochondrial carrier (MC) protein family transport various molecules across
the mitochondrial inner membrane to interlink steps of metabolic pathways and biochemical …
the mitochondrial inner membrane to interlink steps of metabolic pathways and biochemical …
Characterization of human and yeast mitochondrial glycine carriers with implications for heme biosynthesis and anemia
P Lunetti, F Damiano, G De Benedetto… - Journal of Biological …, 2016 - ASBMB
Heme is an essential molecule in many biological processes, such as transport and storage
of oxygen and electron transfer as well as a structural component of hemoproteins. Defects …
of oxygen and electron transfer as well as a structural component of hemoproteins. Defects …
Mitochondrial transport and metabolism of the major methyl donor and versatile cofactor S‐adenosylmethionine, and related diseases: A review†
Abstract S‐adenosyl‐L‐methionine (SAM) is a coenzyme and the most commonly used
methyl‐group donor for the modification of metabolites, DNA, RNA and proteins. SAM …
methyl‐group donor for the modification of metabolites, DNA, RNA and proteins. SAM …