Search Results - "di Lorenzo, Giorgia"
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Taurine deficiency as a driver of aging
Published in Science (American Association for the Advancement of Science) (09-06-2023)“…Aging is associated with changes in circulating levels of various molecules, some of which remain undefined. We find that concentrations of circulating taurine…”
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2
Transgenic inhibition of interleukin-6 trans-signaling does not prevent skeletal pathologies in mucolipidosis type II mice
Published in Scientific reports (11-02-2021)“…Severe skeletal alterations are common symptoms in patients with mucolipidosis type II (MLII), a rare lysosomal storage disorder of childhood. We have…”
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Imbalanced cellular metabolism compromises cartilage homeostasis and joint function in a mouse model of mucolipidosis type III gamma
Published in Disease models & mechanisms (01-11-2020)“…Mucolipidosis type III (MLIII) gamma is a rare inherited lysosomal storage disorder caused by mutations in encoding the γ-subunit of…”
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4
Diversity, Cyanotoxin Production, and Bioactivities of Cyanobacteria Isolated from Freshwaters of Greece
Published in Toxins (25-07-2019)“…Cyanobacteria are a diverse group of photosynthetic Gram-negative bacteria that produce an array of secondary compounds with selective bioactivity against a…”
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5
Role of FAM134 paralogues in endoplasmic reticulum remodeling, ER-phagy, and Collagen quality control
Published in EMBO reports (06-09-2021)“…Degradation of the endoplasmic reticulum (ER) via selective autophagy (ER-phagy) is vital for cellular homeostasis. We identify FAM134A/RETREG2 and…”
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Lysosomal Proteome and Secretome Analysis Identifies Missorted Enzymes and Their Nondegraded Substrates in Mucolipidosis III Mouse Cells
Published in Molecular & cellular proteomics (01-08-2018)“…Targeting of soluble lysosomal enzymes requires mannose 6-phosphate (M6P) signals whose formation is initiated by the hexameric N-acetylglucosamine…”
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Distinct Modes of Balancing Glomerular Cell Proteostasis in Mucolipidosis Type II and III Prevent Proteinuria
Published in Journal of the American Society of Nephrology (01-08-2020)“…The mechanisms balancing proteostasis in glomerular cells are unknown. Mucolipidosis (ML) II and III are rare lysosomal storage disorders associated with…”
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RETREG3/FAM134C phosphorylation by CSNK2 regulates reticulophagy during starvation
Published in Autophagy reports (31-12-2022)“…Starvation is the most potent physiological inducer of autophagy, the catabolic process which degrades unessential cytosolic components to sustain cellular…”
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Acute Ankle Sprain Management: An Umbrella Review of Systematic Reviews
Published in Frontiers in medicine (07-07-2022)“…Even though ankle sprains are among the most frequent musculoskeletal injuries seen in emergency departments, management of these injuries continues to lack…”
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Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III
Published in Genetics in medicine (01-12-2021)“…Purpose Pathogenic variants in GNPTAB and GNPTG , encoding different subunits of GlcNAc-1-phosphotransferase, cause mucolipidosis (ML) II, MLIII alpha/beta,…”
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Phosphorylation of FAM134C by CK2 controls starvation-induced ER-phagy
Published in Science advances (02-09-2022)“…Selective degradation of the endoplasmic reticulum (ER) via autophagy (ER-phagy) is initiated by ER-phagy receptors, which facilitate the incorporation of ER…”
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12
Regulatory events controlling ER-phagy
Published in Current opinion in cell biology (01-06-2022)“…Autophagy of the endoplasmic reticulum (ER), known as ER-phagy, is responsible for the degradation of ER portions by lysosomes. ER-phagy is induced in both…”
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Mice heterozygous for an osteogenesis imperfecta-linked MBTPS2 variant display a compromised subchondral osteocyte lacunocanalicular network associated with abnormal articular cartilage
Published in Bone (New York, N.Y.) (01-12-2023)“…Missense variants in the MBTPS2 gene, located on the X chromosome, have been associated with an X-linked recessive form of osteogenesis imperfecta (X-OI), an…”
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14
Fam134c and Fam134b shape axonal endoplasmic reticulum architecture in vivo
Published in EMBO reports (09-08-2024)“…Endoplasmic reticulum (ER) remodeling is vital for cellular organization. ER-phagy, a selective autophagy targeting ER, plays an important role in maintaining…”
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15
Site-1 protease and lysosomal homeostasis
Published in Biochimica et biophysica acta. Molecular cell research (01-11-2017)“…The Golgi-resident site-1 protease (S1P) is a key regulator of cholesterol homeostasis and ER stress responses by converting latent transcription factors…”
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Variation in response rates to isolated limb perfusion in different soft-tissue tumour subtypes: an international multi-centre study
Published in European journal of cancer (1990) (01-09-2023)“…The aim of this study was to investigate the response rates of different extremity soft-tissue sarcoma subtypes (eSTS) after isolated limb perfusion (ILP),…”
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Imbalanced cellular metabolism compromises cartilage homeostasis and joint function in a mouse model of mucolipidosis type III gamma
Published in Disease models & mechanisms (01-01-2020)“…Mucolipidosis type III (MLIII) gamma is a rare inherited lysosomal storage disorder caused by mutations in GNPTG encoding the γ-subunit of…”
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