“Classical organic acidurias”: diagnosis and pathogenesis

The proteome of methylmalonic acidemia (MMA): the elucidation of altered pathways in patient livers

(2016) Marianna Caterino et al.   Molecular BioSystems

Urinary biomarkers of oxidative damage in Maple syrup urine disease: The l-carnitine role

(2015) Gilian Guerreiro et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE

The proteome of cblC defect: in vivo elucidation of altered cellular pathways in humans

(2015) Marianna Caterino et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients

(2015) Rosalba Carrozzo et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Growth Retardation, General Hypotonia, and Loss of Acquired Neuromotor Skills in the Infants of Mothers With Cobalamin Deficiency and the Possible Role of Succinyl-CoA and Glycine in the Pathogenesis

(2015) Zafer Bicakci   MEDICINE

Intracerebroventricular administration of α-ketoisocaproic acid decreases brain-derived neurotrophic factor and nerve growth factor levels in brain of young rats

(2015) Miriam S. W. Wisniewski et al.   METABOLIC BRAIN DISEASE

Investigation of inflammatory profile in MSUD patients: benefit of L-carnitine supplementation

(2015) Caroline Paula Mescka et al.   METABOLIC BRAIN DISEASE

Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism

(2015) Emanuela Scolamiero et al.   Molecular BioSystems

l -Carnitine supplementation decreases DNA damage in treated MSUD patients

(2015) Caroline Paula Mescka et al.   MUTATION RESEARCH-FUNDAMENTAL AND MOLECULAR MECHANISMS OF MUTAGENESIS

The effect of WIN 55,212-2 suggests a cannabinoid-sensitive component in the early toxicity induced by organic acids accumulating in glutaric acidemia type I and in related disorders of propionate metabolism in rat brain synaptosomes

(2015) A.L. Colín-González et al.   NEUROSCIENCE

Neuroprotective effect of creatine against propionic acid toxicity in neuroblastoma SH-SY5Y cells in culture

(2015) El Ansary Afaf et al.   AFRICAN JOURNAL OF BIOTECHNOLOGY

Antioxidants successfully reduce ROS production in propionic acidemia fibroblasts

(2014) Lorena Gallego-Villar et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Maternal vitamin B12 deficiency detected in expanded newborn screening

(2014) Emanuela Scolamiero et al.   CLINICAL BIOCHEMISTRY

Disruption of redox homeostasis and brain damage caused in vivo by methylmalonic acid and ammonia in cerebral cortex and striatum of developing rats

(2014) C. M. Viegas et al.   FREE RADICAL RESEARCH

Branched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders

(2014) L. C. Burrage et al.   HUMAN MOLECULAR GENETICS

MicroRNA-9 regulates neural apoptosis in methylmalonic acidemia via targeting BCL2L11

(2014) Yanfei Li et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE

Genome instability in Maple Syrup Urine Disease correlates with impaired mitochondrial biogenesis

(2014) Janne M. Strand et al.   METABOLISM-CLINICAL AND EXPERIMENTAL

Successful reversal of propionic acidaemia associated cardiomyopathy: Evidence for low myocardial coenzyme Q10 status and secondary mitochondrial dysfunction as an underlying pathophysiological mechanism

(2014) J. Baruteau et al.   MITOCHONDRION

Coadministration of Branched-Chain Amino Acids and Lipopolysaccharide Causes Matrix Metalloproteinase Activation and Blood–Brain Barrier Breakdown

(2014) Giselli Scaini et al.   MOLECULAR NEUROBIOLOGY

Methylmalonic acidemia: A megamitochondrial disorder affecting the kidney

(2014) Zsuzsanna K. Zsengellér et al.   PEDIATRIC NEPHROLOGY

Branched-chain amino acids influence the immune properties of microglial cells and their responsiveness to pro-inflammatory signals

(2013) Roberta De Simone et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Inhibition of N-acetylglutamate synthase by various monocarboxylic and dicarboxylic short-chain coenzyme A esters and the production of alternative glutamate esters

(2013) M. Dercksen et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Renal growth in isolated methylmalonic acidemia

(2013) Paul S. Kruszka et al.   GENETICS IN MEDICINE

Chronic administration of methylmalonate on young rats alters neuroinflammatory markers and spatial memory

(2013) Leandro Rodrigo Ribeiro et al.   IMMUNOBIOLOGY

Current concepts in organic acidurias: understanding intra- and extracerebral disease manifestation

(2013) Stefan Kölker et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria

(2013) Julien L Marcadier et al.   Orphanet Journal of Rare Diseases

Brain damage in methylmalonic aciduria: 2-methylcitrate induces cerebral ammonium accumulation and apoptosis in 3D organotypic brain cell cultures

(2013) Paris Jafari et al.   Orphanet Journal of Rare Diseases

Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia

(2013) I. Manoli et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Patients with organic acidaemias have an altered thiol status

(2012) Heli Salmi et al.   ACTA PAEDIATRICA

Antioxidant administration prevents memory impairment in an animal model of maple syrup urine disease

(2012) Giselli Scaini et al.   BEHAVIOURAL BRAIN RESEARCH

Proteomics of vitamin B12 processing

(2012) Luciana Hannibal et al.   CLINICAL CHEMISTRY AND LABORATORY MEDICINE

Protein and lipid damage in maple syrup urine disease patients: l-carnitine effect

(2012) Caroline Paula Mescka et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE

Chronic administration of branched-chain amino acids impairs spatial memory and increases brain-derived neurotrophic factor in a rat model

(2012) Giselli Scaini et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism

(2012) David Coelho et al.   NATURE GENETICS

Inborn errors of cobalamin absorption and metabolism

(2011) David Watkins et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Experimental Evidence that Methylmalonic Acid Provokes Oxidative Damage and Compromises Antioxidant Defenses in Nerve Terminal and Striatum of Young Rats

(2011) Carolina Gonçalves Fernandes et al.   CELLULAR AND MOLECULAR NEUROBIOLOGY

Mitochondrial energy metabolism in neurodegeneration associated with methylmalonic acidemia

(2011) Daniela R. Melo et al.   JOURNAL OF BIOENERGETICS AND BIOMEMBRANES

Disruption of mitochondrial homeostasis in organic acidurias: insights from human and animal studies

(2011) Moacir Wajner et al.   JOURNAL OF BIOENERGETICS AND BIOMEMBRANES

Fatal heart failure associated with CoQ10 and multiple OXPHOS deficiency in a child with propionic acidemia

(2011) Konstantina Fragaki et al.   MITOCHONDRION

45-Year-old female with propionic acidemia, renal failure, and premature ovarian failure; late complications of propionic acidemia?

(2011) Christina Lam et al.   MOLECULAR GENETICS AND METABOLISM

Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria

(2011) Jennifer L Sloan et al.   NATURE GENETICS

α-Ketoisocaproic acid and leucine provoke mitochondrial bioenergetic dysfunction in rat brain

(2010) Alexandre Umpierrez Amaral et al.   BRAIN RESEARCH

Amino acid metabolism in patients with propionic acidaemia

(2010) Sabine Scholl-Bürgi et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Targeted Delivery of Saporin Toxin by Monoclonal Antibody to the Transcobalamin Receptor, TCblR/CD320

(2010) E. V. Quadros et al.   MOLECULAR CANCER THERAPEUTICS

Dual mechanism of brain injury and novel treatment strategy in maple syrup urine disease

(2009) W. J. Zinnanti et al.   BRAIN

Creatine administration prevents Na + ,K + -ATPase inhibition induced by intracerebroventricular administration of isovaleric acid in cerebral cortex of young rats

(2009) César Augusto João Ribeiro et al.   BRAIN RESEARCH

Abnormal tricarboxylic acid cycle metabolites in isovaleric acidaemia

(2009) D. T. Loots   JOURNAL OF INHERITED METABOLIC DISEASE

Multiple OXPHOS Deficiency in the Liver, Kidney, Heart, and Skeletal Muscle of Patients With Methylmalonic Aciduria and Propionic Aciduria

(2009) Yves de Keyzer et al.   PEDIATRIC RESEARCH

Induction of oxidative stress by the metabolites accumulating in isovaleric acidemia in brain cortex of young rats

(2008) Alexandre F. Solano et al.   FREE RADICAL RESEARCH

Methylmalonate-induced seizures are attenuated in inducible nitric oxide synthase knockout mice

(2008) Leandro Rodrigo Ribeiro et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE

Methylmalonate inhibits succinate-supported oxygen consumption by interfering with mitochondrial succinate uptake

(2008) S. R. Mirandola et al.   JOURNAL OF INHERITED METABOLIC DISEASE