Propionic acidemia in mice: Liver acyl-CoA levels and clinical course

A novel small molecule approach for the treatment of propionic and methylmalonic acidemias

(2021) Allison J. Armstrong et al.   MOLECULAR GENETICS AND METABOLISM

Pantothenate kinase activation relieves coenzyme A sequestration and improves mitochondrial function in mice with propionic acidemia

(2021) Chitra Subramanian et al.   Science Translational Medicine

Biochemical and anaplerotic applications of in vitro models of propionic acidemia and methylmalonic acidemia using patient-derived primary hepatocytes

(2020) M. Sol Collado et al.   MOLECULAR GENETICS AND METABOLISM

Dual mRNA therapy restores metabolic function in long-term studies in mice with propionic acidemia

(2020) Lei Jiang et al.   Nature Communications

Hereditary diseases of coenzyme A thioester metabolism

(2019) Hao Yang et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Pathophysiology of propionic and methylmalonic acidemias. Part 2: Treatment strategies

(2019) Hanneke A. Haijes et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Pathophysiology of propionic and methylmalonic acidemias. Part 1: Complications

(2019) Hanneke A. Haijes et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Inborn errors of mitochondrial acyl-coenzyme a metabolism: acyl-CoA biology meets the clinic

(2019) Hao Yang et al.   MOLECULAR GENETICS AND METABOLISM

The long-term consequences of antibiotic therapy: Role of colonic short-chain fatty acids (SCFA) system and intestinal barrier integrity

(2019) Yuliia Holota et al.   PLoS One

Intracellular calcium mishandling leads to cardiac dysfunction and ventricular arrhythmias in a mouse model of propionic acidemia

(2019) M. Tamayo et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Liver Transplantation for Propionic Acidemia and Methylmalonic Acidemia: Perioperative Management and Clinical Outcomes

(2018) Kristen Critelli et al.   LIVER TRANSPLANTATION

Treatment with antioxidants ameliorates oxidative damage in a mouse model of propionic acidemia

(2017) Ana Rivera-Barahona et al.   MOLECULAR GENETICS AND METABOLISM

Propionyl-CoA carboxylase – A review

(2017) Parith Wongkittichote et al.   MOLECULAR GENETICS AND METABOLISM

The mouse thermoregulatory system: Its impact on translating biomedical data to humans

(2017) Christopher J. Gordon   PHYSIOLOGY & BEHAVIOR

Methylmalonic and propionic acidemias

(2016) Jamie L. Fraser et al.   CURRENT OPINION IN PEDIATRICS

Understanding molecular mechanisms in propionic acidemia and investigated therapeutic strategies

(2015) Eva Richard et al.   Expert Opinion on Orphan Drugs

Mitochondrial ultrastructure and markers of dynamics in hepatocytes from aged, calorie restricted mice fed with different dietary fats

(2014) Husam Khraiwesh et al.   EXPERIMENTAL GERONTOLOGY

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

(2014) Matthias R Baumgartner et al.   Orphanet Journal of Rare Diseases

Generation of a Hypomorphic Model of Propionic Acidemia Amenable to Gene Therapy Testing

(2013) Adam J Guenzel et al.   MOLECULAR THERAPY

A Liver-Specific Defect of Acyl-CoA Degradation Produces Hyperammonemia, Hypoglycemia and a Distinct Hepatic Acyl-CoA Pattern

(2013) Nicolas Gauthier et al.   PLoS One

Fasting Energy Homeostasis in Mice with Adipose Deficiency of Desnutrin/Adipose Triglyceride Lipase

(2012) Jiang Wei Wu et al.   ENDOCRINOLOGY

A novel biochemically salvageable animal model of hyperammonemia devoid of N-acetylglutamate synthase

(2012) Emilee Senkevitch et al.   MOLECULAR GENETICS AND METABOLISM

Chronic management and health supervision of individuals with propionic acidemia

(2011) V. Reid Sutton et al.   MOLECULAR GENETICS AND METABOLISM

Acute management of propionic acidemia

(2011) Kimberly A. Chapman et al.   MOLECULAR GENETICS AND METABOLISM

Natural history of propionic acidemia

(2011) Loren Pena et al.   MOLECULAR GENETICS AND METABOLISM

Sex- and age-specific differences in core body temperature of C57Bl/6 mice

(2010) Manuel Sanchez-Alavez et al.   AGE

N-acetylglutamate synthase: structure, function and defects

(2010) Ljubica Caldovic et al.   MOLECULAR GENETICS AND METABOLISM

Acylcarnitine profile analysis

(2009) Piero Rinaldo et al.   GENETICS IN MEDICINE

Novel isolation procedure for short-, medium-, and long-chain acyl-coenzyme A esters from tissue

(2008) Paul E. Minkler et al.   ANALYTICAL BIOCHEMISTRY

Structure, mechanism and regulation of pyruvate carboxylase

(2008) Sarawut Jitrapakdee et al.   BIOCHEMICAL JOURNAL

Hereditary and acquired diseases of acyl-coenzyme A metabolism

(2008) Grant A Mitchell et al.   MOLECULAR GENETICS AND METABOLISM

Carglumic acid: an additional therapy in the treatment of organic acidurias with hyperammonemia?

(2008) Virginie Levrat et al.   Orphanet Journal of Rare Diseases