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

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

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

Underestimated Aspect of Mucopolysaccharidosis Pathogenesis: Global Changes in Cellular Processes Revealed by Transcriptomic Studies

(2020) Lidia Gaffke et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Molecular Bases of Neurodegeneration and Cognitive Decline, the Major Burden of Sanfilippo Disease

(2020) Rachel Heon-Roberts et al.   Journal of Clinical Medicine

Proteomic Analysis of Mucopolysaccharidosis IIIB Mouse Brain

(2020) Valeria De Pasquale et al.   Biomolecules

Mechanism of Secondary Ganglioside and Lipid Accumulation in Lysosomal Disease

(2020) Bernadette Breiden et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Pathogenesis of Mucopolysaccharidoses, an Update

(2020) Simona Fecarotta et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Aortopathies in mouse models of Pompe, Fabry and Mucopolysaccharidosis IIIB lysosomal storage diseases

(2020) Maria Paola Belfiore et al.   PLoS One

Cathepsins in the Pathophysiology of Mucopolysaccharidoses: New Perspectives for Therapy

(2020) Valeria De Pasquale et al.   Cells

MitophAging: Mitophagy in Aging and Disease

(2020) Daniela Bakula et al.   Frontiers in Cell and Developmental Biology

Analysis of Mucopolysaccharidosis Type VI through Integrative Functional Metabolomics

(2019) Abdellah Tebani et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Lysosomal storage disorders: pathology within the lysosome and beyond

(2019) Tammy Kielian   JOURNAL OF NEUROCHEMISTRY

Heparan sulfate proteoglycans: The sweet side of development turns sour in mucopolysaccharidoses

(2019) Valeria De Pasquale et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Nutrient regulation of mTORC1 at a glance

(2019) Kendall J. Condon et al.   JOURNAL OF CELL SCIENCE

Branched Chain Amino Acids: Beyond Nutrition Metabolism

(2018) Cunxi Nie et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Clinical presentation and diagnosis of mucopolysaccharidoses

(2018) Molly Stapleton et al.   MOLECULAR GENETICS AND METABOLISM

EGFR activation triggers cellular hypertrophy and lysosomal disease in NAGLU-depleted cardiomyoblasts, mimicking the hallmarks of mucopolysaccharidosis IIIB

(2018) Valeria De Pasquale et al.   Cell Death & Disease

Targeted metabolomic profiling in rat tissues reveals sex differences

(2018) Margherita Ruoppolo et al.   Scientific Reports

Targeting Heparan Sulfate Proteoglycans as a Novel Therapeutic Strategy for Mucopolysaccharidoses

(2018) Valeria De Pasquale et al.   Molecular Therapy-Methods & Clinical Development

The saturation degree of fatty acids and their derived acylcarnitines determines the direct effect of metabolically active thyroid hormones on insulin sensitivity in skeletal muscle cells

(2018) Antonia Giacco et al.   FASEB JOURNAL

Lysosome biogenesis in health and disease

(2018) Lakshya Bajaj et al.   JOURNAL OF NEUROCHEMISTRY

Unveiling metabolic remodeling in mucopolysaccharidosis type III through integrative metabolomics and pathway analysis

(2018) Abdellah Tebani et al.   Journal of Translational Medicine

Anatomical changes and pathophysiology of the brain in mucopolysaccharidosis disorders

(2018) Brian W. Bigger et al.   MOLECULAR GENETICS AND METABOLISM

Quantitative Analysis of the Whole-Body Metabolic Fate of Branched-Chain Amino Acids

(2018) Michael D. Neinast et al.   Cell Metabolism

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

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

The role of innate immunity in mucopolysaccharide diseases

(2018) Helen Parker et al.   JOURNAL OF NEUROCHEMISTRY

Lysosomal storage diseases

(2018) Frances M. Platt et al.   Nature Reviews Disease Primers

Dysregulation of autophagy as a common mechanism in lysosomal storage diseases

(2017) Elena Seranova et al.   Essays in Biochemistry

mTORC1 as the main gateway to autophagy

(2017) Yoana Rabanal-Ruiz et al.   Essays in Biochemistry

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

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

Advances in metabolome information retrieval: turning chemistry into biology. Part I: analytical chemistry of the metabolome

(2017) Abdellah Tebani et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Advances in metabolome information retrieval: turning chemistry into biology. Part II: biological information recovery

(2017) Abdellah Tebani et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Serum global metabolomics profiling reveals profound metabolic impairments in patients with MPS IIIA and MPS IIIB

(2017) Haiyan Fu et al.   METABOLIC BRAIN DISEASE

Near-Complete Correction of Profound Metabolomic Impairments Corresponding to Functional Benefit in MPS IIIB Mice after IV rAAV9-hNAGLU Gene Delivery

(2017) Haiyan Fu et al.   MOLECULAR THERAPY

Mitochondrial Dysfunction and Neurodegeneration in Lysosomal Storage Disorders

(2017) Nicoletta Plotegher et al.   TRENDS IN MOLECULAR MEDICINE

Branched-Chain Amino Acid Negatively Regulates KLF15 Expression via PI3K-AKT Pathway

(2017) Yunxia Liu et al.   Frontiers in Physiology

Autophagy, lipophagy and lysosomal lipid storage disorders

(2016) Carl Ward et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Amino Acid Sensing by mTORC1: Intracellular Transporters Mark the Spot

(2016) Deborah C.I. Goberdhan et al.   Cell Metabolism

Amino Acids Regulate mTORC1 by an Obligate Two-step Mechanism

(2016) Julia Dyachok et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

(2016) Marianna Caterino et al.   Molecular BioSystems

Lysosomal storage of heparan sulfate causes mitochondrial defects, altered autophagy, and neuronal death in the mouse model of mucopolysaccharidosis III type C

(2015) Alexey V. Pshezhetsky   Autophagy

The clinical spectrum and pathophysiology of skeletal complications in lysosomal storage disorders

(2015) Lorne A. Clarke et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Neuroinflammation, mitochondrial defects and neurodegeneration in mucopolysaccharidosis III type C mouse model

(2015) Carla Martins et al.   BRAIN

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

(2015) Emanuela Scolamiero et al.   Molecular BioSystems

The Murine Model of Mucopolysaccharidosis IIIB Develops Cardiopathies over Time Leading to Heart Failure

(2015) Gabriele Giacomo Schiattarella et al.   PLoS One

Lysosomal storage diseases as disorders of autophagy

(2014) Carmine Settembre et al.   Autophagy

Serotonin activates cell survival and apoptotic death responses in cultured epithelial thyroid cells

(2014) Giuliana Cerulo et al.   BIOCHIMIE

Maternal vitamin B12 deficiency detected in expanded newborn screening

(2014) Emanuela Scolamiero et al.   CLINICAL BIOCHEMISTRY

New Anticancer Agents Mimicking Protein Recognition Motifs

(2013) Marco Persico et al.   JOURNAL OF MEDICINAL CHEMISTRY

A Tumor Suppressor Complex with GAP Activity for the Rag GTPases That Signal Amino Acid Sufficiency to mTORC1

(2013) L. Bar-Peled et al.   SCIENCE

Autophagy in lysosomal storage disorders

(2012) Andrew P. Lieberman et al.   Autophagy

Interplay between Lipids and Branched-Chain Amino Acids in Development of Insulin Resistance

(2012) Christopher B. Newgard   Cell Metabolism

Role of serotonergic system in the pathogenesis of fibrosis in canine idiopathic inflammatory myopathies

(2012) Luigi Michele Pavone et al.   NEUROMUSCULAR DISORDERS

Amino acids and mTORC1: from lysosomes to disease

(2012) Alejo Efeyan et al.   TRENDS IN MOLECULAR MEDICINE

Fate Map of Serotonin Transporter-Expressing Cells in Developing Mouse Thyroid

(2011) Anna Spina et al.   Anatomical Record-Advances in Integrative Anatomy and Evolutionary Biology

Bone, joint and tooth development in mucopolysaccharidoses: Relevance to therapeutic options

(2011) E. Oussoren et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

AMPK and mTOR regulate autophagy through direct phosphorylation of Ulk1

(2011) Joungmok Kim et al.   NATURE CELL BIOLOGY

TFEB Links Autophagy to Lysosomal Biogenesis

(2011) C. Settembre et al.   SCIENCE

Common and Uncommon Pathogenic Cascades in Lysosomal Storage Diseases

(2010) Einat B. Vitner et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Autophagy and the Integrated Stress Response

(2010) Guido Kroemer et al.   MOLECULAR CELL

Metabolic Adaptations to Interrupted Glycosaminoglycan Recycling

(2009) Josh C. Woloszynek et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Genistein reduces lysosomal storage in peripheral tissues of mucopolysaccharide IIIB mice

(2009) Marcelina Malinowska et al.   MOLECULAR GENETICS AND METABOLISM

Regulation of TORC1 by Rag GTPases in nutrient response

(2008) Eunjung Kim et al.   NATURE CELL BIOLOGY

The Rag GTPases Bind Raptor and Mediate Amino Acid Signaling to mTORC1

(2008) Y. Sancak et al.   SCIENCE