The first knock-in rat model for glutaric aciduria type I allows further insights into pathophysiology in brain and periphery

Influence of Sex on Urinary Organic Acids: A Cross-Sectional Study in Children

(2020) Marianna Caterino et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Proteomic Analysis of Mucopolysaccharidosis IIIB Mouse Brain

(2020) Valeria De Pasquale et al.   Biomolecules

Molecular and biochemical study of glutaric aciduria type 1 in 49 Russian families: nine novel mutations in the GCDH gene

(2020) Marina V. Kurkina et al.   METABOLIC BRAIN DISEASE

Proteomics Reveals that Methylmalonyl-CoA Mutase Modulates Cell Architecture and Increases Susceptibility to Stress

(2020) Michele Costanzo et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Targeted Metabolomic Analysis of a Mucopolysaccharidosis IIIB Mouse Model Reveals an Imbalance of Branched-Chain Amino Acid and Fatty Acid Metabolism

(2020) Valeria De Pasquale et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Deletion of 2‐aminoadipic semialdehyde synthase limits metabolite accumulation in cell and mouse models for glutaric aciduria type 1

(2020) João Leandro et al.   JOURNAL OF INHERITED METABOLIC DISEASE

The lysine degradation pathway: Subcellular compartmentalization and enzyme deficiencies

(2020) João Leandro et al.   MOLECULAR GENETICS AND METABOLISM

Impact of interventional and non‐interventional variables on anthropometric long‐term development in glutaric aciduria type 1: A national prospective multi‐centre study

(2020) E. M. Charlotte Märtner et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Ammonium accumulation and chemokine decrease in culture media of Gcdh−/− 3D reaggregated brain cell cultures

(2019) Hong-Phuc Cudré-Cung et al.   MOLECULAR GENETICS AND METABOLISM

Patterns, evolution, and severity of striatal injury in insidious‐ vs acute‐onset glutaric aciduria type 1

(2019) Nikolas Boy et al.   JOURNAL OF INHERITED METABOLIC DISEASE

New insights into human lysine degradation pathways with relevance to pyridoxine dependent epilepsy due to antiquitin deficiency

(2019) Lisa M. Crowther et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Pathogenesis of brain damage in glutaric acidemia type I: Lessons from the genetic mice model

(2019) Moacir Wajner et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE

Longitudinal neurometabolic changes in the hippocampus of a rat model of chronic hepatic encephalopathy

(2019) Olivier Braissant et al.   JOURNAL OF HEPATOLOGY

Merged Targeted Quantification and Untargeted Profiling for Comprehensive Assessment of Acylcarnitine and Amino Acid Metabolism

(2019) Tony Teav et al.   ANALYTICAL CHEMISTRY

Acute lysine overload provokes marked striatum injury involving oxidative stress signaling pathways in glutaryl-CoA dehydrogenase deficient mice

(2019) Alexandre Umpierrez Amaral et al.   NEUROCHEMISTRY INTERNATIONAL

Expression of lysine-mediated neuropeptide hormones controlling satiety and appetite in broiler chickens

(2019) Collins N. Khwatenge et al.   POULTRY SCIENCE

Newborn screening: A disease-changing intervention for glutaric aciduria type 1

(2018) Nikolas Boy et al.   ANNALS OF NEUROLOGY

The Glymphatic System and Waste Clearance with Brain Aging: A Review

(2018) Helene Benveniste et al.   GERONTOLOGY

iGlu-Lys: A Predictor for Lysine Glutarylation through Amino Acid Pair Order Features

(2018) Yan Xu et al.   IEEE TRANSACTIONS ON NANOBIOSCIENCE

Urine Proteomics Revealed a Significant Correlation Between Urine-Fibronectin Abundance and Estimated-GFR Decline in Patients with Bardet-Biedl Syndrome

(2018) Marianna Caterino et al.   KIDNEY & BLOOD PRESSURE RESEARCH

Handling Macromolecule Signals in the Quantification of the Neurochemical Profile

(2018) Cristina Cudalbu et al.   JOURNAL OF ALZHEIMERS DISEASE

Disease-Linked Glutarylation Impairs Function and Interactions of Mitochondrial Proteins and Contributes to Mitochondrial Heterogeneity

(2018) Jessica Schmiesing et al.   Cell Reports

Label-Free Quantitative Proteomics in a Methylmalonyl-CoA Mutase-Silenced Neuroblastoma Cell Line

(2018) Michele Costanzo et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Effects of alpha-melanocyte-stimulating hormone on mitochondrial energy metabolism in rats of different age-groups

(2017) René G. Feichtinger et al.   NEUROPEPTIDES

Immunolocalization of glutaryl-CoA dehydrogenase (GCDH) in adult and embryonic rat brain and peripheral tissues

(2017) Olivier Braissant et al.   NEUROSCIENCE

Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity

(2017) Nikolas Boy et al.   Orphanet Journal of Rare Diseases

Amino acid sensing in hypothalamic tanycytes via umami taste receptors

(2017) Greta Lazutkaite et al.   Molecular Metabolism

Rodent models in neuroscience research: is it a rat race?

(2016) Bart Ellenbroek et al.   Disease Models & Mechanisms

Astrocyte roles in traumatic brain injury

(2016) Joshua E. Burda et al.   EXPERIMENTAL NEUROLOGY

Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision

(2016) Nikolas Boy et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Tollip, an early regulator of the acute inflammatory response in the substantia nigra

(2016) Marie Humbert-Claude et al.   Journal of Neuroinflammation

Mass Spectrometry-Based Metabolomic and Proteomic Strategies in Organic Acidemias

(2016) Esther Imperlini et al.   Biomed Research International

Astrocytes: a central element in neurological diseases

(2015) Milos Pekny et al.   ACTA NEUROPATHOLOGICA

Multifactorial modulation of susceptibility to l-lysine in an animal model of glutaric aciduria type I

(2015) Sven W. Sauer et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Striatal neuronal death mediated by astrocytes from the Gcdh−/− mouse model of glutaric acidemia type I

(2015) Silvia Olivera-Bravo et al.   HUMAN MOLECULAR GENETICS

1H-MRS in glutaric aciduria type 1: impact of biochemical phenotype and age on the cerebral accumulation of neurotoxic metabolites

(2015) Inga Harting et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Reactive Astrogliosis Causes the Development of Spontaneous Seizures

(2015) S. Robel et al.   JOURNAL OF NEUROSCIENCE

Oxidative Stress, Disrupted Energy Metabolism, and Altered Signaling Pathways in Glutaryl-CoA Dehydrogenase Knockout Mice: Potential Implications of Quinolinic Acid Toxicity in the Neuropathology of Glutaric Acidemia Type I

(2015) Bianca Seminotti et al.   MOLECULAR NEUROBIOLOGY

Clearance systems in the brain—implications for Alzheimer disease

(2015) Jenna M. Tarasoff-Conway et al.   Nature Reviews Neurology

Lysine Glutarylation Is a Protein Posttranslational Modification Regulated by SIRT5

(2014) Minjia Tan et al.   Cell Metabolism

Astrogliosis

(2014) Michael V. Sofroniew   Cold Spring Harbor Perspectives in Biology

Meal Pattern of Male Rats Maintained on Amino Acid Supplemented Diets: The Effect of Tryptophan, Lysine, Arginine, Proline and Threonine

(2014) Raghad Ayaso et al.   Nutrients

Lysine metabolism in mammalian brain: an update on the importance of recent discoveries

(2013) André Hallen et al.   AMINO ACIDS

Specific amino acids inhibit food intake via the area postrema or vagal afferents

(2013) Josua Jordi et al.   JOURNAL OF PHYSIOLOGY-LONDON

Ammonium Accumulation and Cell Death in a Rat 3D Brain Cell Model of Glutaric Aciduria Type I

(2013) Paris Jafari et al.   PLoS One

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

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

Mouse model of encephalopathy and novel treatment strategies with substrate competition in glutaric aciduria type I

(2010) William J. Zinnanti et al.   MOLECULAR GENETICS AND METABOLISM

Structural insight on the control of urea synthesis: identification of the binding site forN-acetyl-L-glutamate, the essential allosteric activator of mitochondrial carbamoyl phosphate synthetase1

(2009) Satu Pekkala et al.   BIOCHEMICAL JOURNAL

Ammonia toxicity and its prevention in inherited defects of the urea cycle

(2009) V. Walker   DIABETES OBESITY & METABOLISM

Cognitive, behavioural and adaptive profiles of children with glutaric aciduria type I detected through newborn screening

(2009) M. H. Beauchamp et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH)

(2008) B. Keyser et al.   HUMAN MOLECULAR GENETICS

Prenatal cerebral ultrasound and MRI findings in glutaric aciduria Type 1: ade novo case

(2008) C. Mellerio et al.   ULTRASOUND IN OBSTETRICS & GYNECOLOGY