Effective AAV-mediated gene therapy in a mouse model of ethylmalonic encephalopathy

Eukaryotic and prokaryotic contributions to colonic hydrogen sulfide synthesis

(2011) Kyle L. Flannigan et al.   AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY

Morphologic evidence of diffuse vascular damage in human and in the experimental model of ethylmalonic encephalopathy

(2011) Carla Giordano et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Adenovirus-Associated Virus Vector–Mediated Gene Transfer in Hemophilia B

(2011) Amit C. Nathwani et al.   NEW ENGLAND JOURNAL OF MEDICINE

Chronic Exposure to Sulfide Causes Accelerated Degradation of Cytochrome c Oxidase in Ethylmalonic Encephalopathy

(2010) Ivano Di Meo et al.   ANTIOXIDANTS & REDOX SIGNALING

Redox Biochemistry of Hydrogen Sulfide

(2010) Omer Kabil et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Hydrogen sulfide as a gasotransmitter

(2010) Moataz M. Gadalla et al.   JOURNAL OF NEUROCHEMISTRY

Combined treatment with oral metronidazole and N-acetylcysteine is effective in ethylmalonic encephalopathy

(2010) Carlo Viscomi et al.   NATURE MEDICINE

Loss of ETHE1, a mitochondrial dioxygenase, causes fatal sulfide toxicity in ethylmalonic encephalopathy

(2009) Valeria Tiranti et al.   NATURE MEDICINE

Three enzymatic activities catalyze the oxidation of sulfide to thiosulfate in mammalian and invertebrate mitochondria

(2008) Tatjana M. Hildebrandt et al.   FEBS Journal

Early-onset liver mtDNA depletion and late-onset proteinuric nephropathy in Mpv17 knockout mice

(2008) Carlo Viscomi et al.   HUMAN MOLECULAR GENETICS

Biochemical, Pathological, and Skeletal Improvement of Mucopolysaccharidosis VI After Gene Transfer to Liver but Not to Muscle

(2007) Alessandra Tessitore et al.   MOLECULAR THERAPY