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

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

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

Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes

(2020) Leigh C. Carmody et al.   Orphanet Journal of Rare Diseases

Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency

(2020) Alessandro Luciani et al.   Nature Communications

Proteomic Analysis of Mucopolysaccharidosis IIIB Mouse Brain

(2020) Valeria De Pasquale et al.   Biomolecules

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

Liposome-Embedding Silicon Microparticle for Oxaliplatin Delivery in Tumor Chemotherapy

(2020) Armando Cevenini et al.   Pharmaceutics

Mitochondrial Genetic Disorders: Cell Signaling and Pharmacological Therapies

(2019) Fatima Djouadi et al.   Cells

NCOA4-Mediated Ferritinophagy: A Potential Link to Neurodegeneration

(2019) Maria Quiles del Rey et al.   Frontiers in Neuroscience

Comparative Proteomic Analysis Reveals the Up‐Regulation of Ketogenesis in Cardiomyocytes Differentiated from Induced Pluripotent Stem Cells

(2019) Sun Joo Kim et al.   PROTEOMICS

Pathophysiology of propionic and methylmalonic acidemias. Part 1: Complications

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

Ferritinophagic Flux Activation in CT26 Cells Contributed to EMT Inhibition Induced by a Novel Iron Chelator, DpdtpA

(2019) Yanjie Sun et al.   Oxidative Medicine and Cellular Longevity

Crosstalk between 14-3-3θ and AF4 enhances MLL-AF4 activity and promotes leukemia cell proliferation

(2019) Tiziana Fioretti et al.   CELLULAR ONCOLOGY

Multi-omics studies in cellular models of methylmalonic acidemia and propionic acidemia reveal dysregulation of serine metabolism

(2019) Arianna Franca Anzmann et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Downregulation of annexin A3 inhibits tumor metastasis and decreases drug resistance in breast cancer

(2018) Ruikai Du et al.   Cell Death & Disease

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

Carnitine palmitoyltransferase gene upregulation by linoleic acid induces CD4+ T cell apoptosis promoting HCC development

(2018) Zachary J. Brown et al.   Cell Death & Disease

Targeted metabolomic profiling in rat tissues reveals sex differences

(2018) Margherita Ruoppolo et al.   Scientific Reports

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

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

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

The PRIDE database and related tools and resources in 2019: improving support for quantification data

(2018) Yasset Perez-Riverol et al.   NUCLEIC ACIDS RESEARCH

Hyperammonaemia in classic organic acidaemias: a review of the literature and two case histories

(2018) Johannes Häberle et al.   Orphanet Journal of Rare Diseases

Protein–protein interaction networks as a new perspective to evaluate distinct functional roles of voltage-dependent anion channel isoforms

(2017) Marianna Caterino et al.   Molecular BioSystems

Protective effect of glutamine on the main and adjacent organs damaged by ischemia-reperfusion in rats

(2017) Renata Minuzzo Hartmann et al.   PROTOPLASMA

“Classical organic acidurias”: diagnosis and pathogenesis

(2016) Guglielmo RD Villani et al.   CLINICAL AND EXPERIMENTAL MEDICINE

Functional characterization of novel ABCB6 mutations and their clinical implications in familial pseudohyperkalemia

(2016) I. Andolfo et al.   HAEMATOLOGICA

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

(2016) Marianna Caterino et al.   Molecular BioSystems

Enrichr: a comprehensive gene set enrichment analysis web server 2016 update

(2016) Maxim V. Kuleshov et al.   NUCLEIC ACIDS RESEARCH

Downregulation of vimentin expression increased drug resistance in ovarian cancer cells

(2016) Yi Huo et al.   Oncotarget

Functional characterization of novel ABCB6 mutations and their clinical implications in familial pseudohyperkalemia

(2016) I. Andolfo et al.   HAEMATOLOGICA

Down-regulation of coasy, the gene associated with NBIA-VI, reduces Bmp signaling, perturbs dorso-ventral patterning and alters neuronal development in zebrafish

(2016) Deepak Khatri et al.   Scientific Reports

Fluorescent imaging of endothelial glycocalyx layer with wheat germ agglutinin using intravital microscopy

(2015) Hanae Kataoka et al.   MICROSCOPY RESEARCH AND TECHNIQUE

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

(2015) Emanuela Scolamiero et al.   Molecular BioSystems

MitoCarta2.0: an updated inventory of mammalian mitochondrial proteins

(2015) Sarah E. Calvo et al.   NUCLEIC ACIDS RESEARCH

Ferritinophagy via NCOA4 is required for erythropoiesis and is regulated by iron dependent HERC2-mediated proteolysis

(2015) Joseph D Mancias et al.   eLife

Wnt Signalling Promotes Actin Dynamics during Axon Remodelling through the Actin-Binding Protein Eps8

(2015) Eleanna Stamatakou et al.   PLoS One

HERC2 Targets the Iron Regulator FBXL5 for Degradation and Modulates Iron Metabolism

(2014) Toshiro Moroishi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The deubiquitylase USP33 discriminates between RALB functions in autophagy and innate immune response

(2013) Michal Simicek et al.   NATURE CELL BIOLOGY

The role of iron and reactive oxygen species in cell death

(2013) Scott J Dixon et al.   Nature Chemical Biology

PKD is a kinase of Vps34 that mediates ROS-induced autophagy downstream of DAPk

(2011) A Eisenberg-Lerner et al.   CELL DEATH AND DIFFERENTIATION

Experimental Evidence that Methylmalonic Acid Provokes Oxidative Damage and Compromises Antioxidant Defenses in Nerve Terminal and Striatum of Young Rats

(2011) Carolina Gonçalves Fernandes et al.   CELLULAR AND MOLECULAR NEUROBIOLOGY

Advances and challenges in the treatment of branched-chain amino/keto acid metabolic defects

(2011) Ina Knerr et al.   JOURNAL OF INHERITED METABOLIC DISEASE

The MMACHC proteome: Hallmarks of functional cobalamin deficiency in humans

(2011) Luciana Hannibal et al.   MOLECULAR GENETICS AND METABOLISM

Quantitative Proteomics Reveals Subset-Specific Viral Recognition in Dendritic Cells

(2010) Christian A. Luber et al.   IMMUNITY

Mitochondrial dysfunction in mut methylmalonic acidemia

(2008) Randy J. Chandler et al.   FASEB JOURNAL

MaxQuant enables high peptide identification rates, individualized p.p.b.-range mass accuracies and proteome-wide protein quantification

(2008) Jürgen Cox et al.   NATURE BIOTECHNOLOGY