Beclin‐1‐mediated activation of autophagy improves proximal and distal urea cycle disorders

Metabolomics and mass spectrometry imaging reveal channeled de novo purine synthesis in cells

(2020) Vidhi Pareek et al.   SCIENCE

An engineered E. coli Nissle improves hyperammonemia and survival in mice and shows dose-dependent exposure in healthy humans

(2019) Caroline B. Kurtz et al.   Science Translational Medicine

Ammonia and autophagy: An emerging relationship with implications for disorders with hyperammonemia

(2019) Leandro R. Soria et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects

(2019) Julien Baruteau et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Autophagy in liver diseases: Time for translation?

(2019) Manon Allaire et al.   JOURNAL OF HEPATOLOGY

Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision

(2019) Johannes Häberle et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Progress and challenges in development of new therapies for urea cycle disorders

(2019) Leandro R Soria et al.   HUMAN MOLECULAR GENETICS

Chronic Liver Involvement in Urea Cycle Disorders

(2019) G. Ranucci et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Nuclear Glycogenolysis Modulates Histone Acetylation in Human Non-Small Cell Lung Cancers

(2019) Ramon C. Sun et al.   Cell Metabolism

Urea Cycle Related Amino Acids Measured in Dried Bloodspots Enable Long-Term In Vivo Monitoring and Therapeutic Adjustment

(2019) Julien Baruteau et al.   Metabolites

Autophagy in hepatic adaptation to stress

(2019) Younis Hazari et al.   JOURNAL OF HEPATOLOGY

High-Throughput Screens To Identify Autophagy Inducers That Function by Disrupting Beclin 1/Bcl-2 Binding

(2018) Wei-Chung Chiang et al.   ACS Chemical Biology

Beclin-1-Dependent Autophagy Protects the Heart During Sepsis

(2018) Yuxiao Sun et al.   CIRCULATION

The dynamic life of the glycogen granule

(2018) Clara Prats et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Targeted mRNA Therapy for Ornithine Transcarbamylase Deficiency

(2018) Mary G. Prieve et al.   MOLECULAR THERAPY

Increased autophagy blocks HER2-mediated breast tumorigenesis

(2018) Silvia Vega-Rubín-de-Celis et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Autophagy Differentially Regulates Insulin Production and Insulin Sensitivity

(2018) Soh Yamamoto et al.   Cell Reports

Argininosuccinate Lyase Deficiency Causes an Endothelial-Dependent Form of Hypertension

(2018) Jordan Kho et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Targeting autophagy for therapy of hyperammonemia

(2018) Leandro R. Soria et al.   Autophagy

AMPK-Mediated BECN1 Phosphorylation Promotes Ferroptosis by Directly Blocking System Xc– Activity

(2018) Xinxin Song et al.   CURRENT BIOLOGY

Adeno-associated viral gene therapy corrects a mouse model of argininosuccinic aciduria

(2018) Scott N. Ashley et al.   MOLECULAR GENETICS AND METABOLISM

Disruption of the beclin 1–BCL2 autophagy regulatory complex promotes longevity in mice

(2018) Álvaro F. Fernández et al.   NATURE

Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer

(2018) Julien Baruteau et al.   Nature Communications

Post-translational modifications of Beclin 1 provide multiple strategies for autophagy regulation

(2018) Sandra M. Hill et al.   CELL DEATH AND DIFFERENTIATION

A 6-Year-Old Child With Citrin Deficiency and Advanced Hepatocellular Carcinoma

(2018) Limin Wang et al.   PEDIATRICS

Autophagy determines efficiency of liver-directed gene therapy with adeno-associated viral vectors

(2017) Marianna Hösel et al.   HEPATOLOGY

mTORC1 hyperactivation arrests bone growth in lysosomal storage disorders by suppressing autophagy

(2017) Rosa Bartolomeo et al.   JOURNAL OF CLINICAL INVESTIGATION

Expanding the phenotype in argininosuccinic aciduria: need for new therapies

(2017) Julien Baruteau et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Liver involvement in urea cycle disorders: a review of the literature

(2017) Adrien Bigot et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Diversity-Oriented Stapling Yields Intrinsically Cell-Penetrant Inducers of Autophagy

(2017) Leila Peraro et al.   JOURNAL OF THE AMERICAN CHEMICAL SOCIETY

AAV gene therapy corrects OTC deficiency and prevents liver fibrosis in aged OTC-knock out heterozygous mice

(2017) Lili Wang et al.   MOLECULAR GENETICS AND METABOLISM

Biopsy-proven Hepatocellular Carcinoma in a 53-year-old Woman With Arginase Deficiency

(2017) Matthew Koo et al.   PEDIATRIC AND DEVELOPMENTAL PATHOLOGY

Enhancement of hepatic autophagy increases ureagenesis and protects against hyperammonemia

(2017) Leandro R. Soria et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Becn1 mutation mediates hyperactive autophagic sequestration of amyloid oligomers and improved cognition in Alzheimer's disease

(2017) Altea Rocchi et al.   PLoS Genetics

Caloric Restriction Mimetics Enhance Anticancer Immunosurveillance

(2016) Federico Pietrocola et al.   CANCER CELL

Induction of autophagy improves hepatic lipid metabolism in glucose-6-phosphatase deficiency

(2016) Benjamin L. Farah et al.   JOURNAL OF HEPATOLOGY

Rapid quantification of underivatized amino acids in plasma by hydrophilic interaction liquid chromatography (HILIC) coupled with tandem mass-spectrometry

(2016) Hubertus C. M. T. Prinsen et al.   JOURNAL OF INHERITED METABOLIC DISEASE

A dual AAV system enables the Cas9-mediated correction of a metabolic liver disease in newborn mice

(2016) Yang Yang et al.   NATURE BIOTECHNOLOGY

Autophagy induction stabilizes microtubules and promotes axon regeneration after spinal cord injury

(2016) Miao He et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

FGF signalling regulates bone growth through autophagy

(2015) Laura Cinque et al.   NATURE

Autophagy at the crossroads of catabolism and anabolism

(2015) Jasvinder Kaur et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Rapamycin: One Drug, Many Effects

(2014) Jing Li et al.   Cell Metabolism

Enzyme clustering accelerates processing of intermediates through metabolic channeling

(2014) Michele Castellana et al.   NATURE BIOTECHNOLOGY

The Nutrient-Responsive Transcription Factor TFE3 Promotes Autophagy, Lysosomal Biogenesis, and Clearance of Cellular Debris

(2014) J. A. Martina et al.   Science Signaling

Autophagy Is Required for Glucose Homeostasis and Lung Tumor Maintenance

(2014) G. Karsli-Uzunbas et al.   Cancer Discovery

Transcription factor EB (TFEB) is a new therapeutic target for Pompe disease

(2013) Carmine Spampanato et al.   EMBO Molecular Medicine

Histopathological findings in livers of patients with urea cycle disorders

(2013) Joy Yaplito-Lee et al.   MOLECULAR GENETICS AND METABOLISM

Identification of a candidate therapeutic autophagy-inducing peptide

(2013) Sanae Shoji-Kawata et al.   NATURE

Nitric-Oxide Supplementation for Treatment of Long-Term Complications in Argininosuccinic Aciduria

(2012) Sandesh C.S. Nagamani et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Hepatocellular carcinoma in a research subject with ornithine transcarbamylase deficiency

(2011) James M. Wilson et al.   MOLECULAR GENETICS AND METABOLISM

Requirement of argininosuccinate lyase for systemic nitric oxide production

(2011) Ayelet Erez et al.   NATURE MEDICINE

Inhibition of glycogen biosynthesis via mTORC1 suppression as an adjunct therapy for Pompe disease

(2010) Karen M. Ashe et al.   MOLECULAR GENETICS AND METABOLISM

AAV2/8-mediated Correction of OTC Deficiency Is Robust in Adult but Not Neonatal Spfash Mice

(2009) Sharon C Cunningham et al.   MOLECULAR THERAPY

Beclin1-binding UVRAG targets the class C Vps complex to coordinate autophagosome maturation and endocytic trafficking

(2008) Chengyu Liang et al.   NATURE CELL BIOLOGY