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Search life-sciences literature (45,104,145 articles, preprints and more)

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Characterization of Two Novel PNKP Splice-Site Variants in a Proband With Microcephaly, Intellectual Disability, and Multiple Malformations.
Sorrentino U, Baschiera E, Desbats MA, Zuffardi O, Salviati L, Cassina M
Am J Med Genet B Neuropsychiatr Genet, e33013, 17 Oct 2024
Cited by: 0 articles | PMID: 39417375
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A yeast based assay establishes the pathogenicity of novel missense ACTA2 variants associated with aortic aneurysms.
Calderan C, Sorrentino U, Persano L, Trevisson E, Sartori G, Salviati L, Desbats MA
Eur J Hum Genet, 32(7):804-812, 15 Mar 2024
Cited by: 1 article | PMID: 38486025
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Retinoic acid receptor activation reprograms senescence response and enhances anti-tumor activity of natural killer cells.
Colucci M, Zumerle S, Bressan S, Gianfanti F, Troiani M, Valdata A, D'Ambrosio M, Pasquini E, Varesi A, Cogo F, Mosole S, Dongilli C, Desbats MA, Contu L, Revankdar A, Chen J, Kalathur M, Perciato ML, Basilotta R, [...] Alimonti A
Cancer Cell, 42(4):646-661.e9, 29 Feb 2024
Cited by: 6 articles | PMID: 38428412 | PMCID: PMC11003464
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COQ4 is required for the oxidative decarboxylation of the C1 carbon of coenzyme Q in eukaryotic cells.
Pelosi L, Morbiato L, Burgardt A, Tonello F, Bartlett AK, Guerra RM, Ferizhendi KK, Desbats MA, Rascalou B, Marchi M, Vázquez-Fonseca L, Agosto C, Zanotti G, Roger-Margueritat M, Alcázar-Fabra M, García-Corzo L, Sánchez-Cuesta A, Navas P, Brea-Calvo G, [...] Pierrel F
Mol Cell, 84(5):981-989.e7, 30 Jan 2024
Cited by: 6 articles | PMID: 38295803 | PMCID: PMC7616408
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COQ4 is required for the oxidative decarboxylation of the C1 carbon of Coenzyme Q in eukaryotic cells
Pelosi L, Morbiato L, Burgardt A, Tonello F, Bartlett AK, Guerra RM, Ferizhendi KK, Desbats MA, Rascalou B, Marchi M, Vázquez-Fonseca L, Agosto C, Zanotti G, Roger-Margueritat M, Alcázar-Fabra M, García-Corzo L, Sánchez-Cuesta A, Navas P, Brea-Calvo G, [...] Pierrel F
bioRxiv, 13 Nov 2023
Cited by: 0 articles | PPR: PPR758716
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Distal hereditary motor neuropathy caused by coenzyme Q deficiency due to COQ7 variants.
Desbats MA, Salviati L
Brain, 146(10):3958-3959, 01 Oct 2023
Cited by: 0 articles | PMID: 37671546
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Mitochondrial DNA released by senescent cells triggers immunosuppression in cancer
Lai P, Liu L, Bancaro N, Troiani M, Calì B, Chen J, Singh PK, Arzola RA, Attanasio G, Pernigoni N, Pasquini E, Mosole S, Rinaldi A, Sgrignani J, Li Y, Qiu S, Song P, Li Y, Desbats MA, [...] Alimonti A
bioRxiv, 07 Aug 2023
Cited by: 0 articles | PPR: PPR703486
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Defective excitation-contraction coupling and mitochondrial respiration precede mitochondrial Ca²⁺ accumulation in spinobulbar muscular atrophy skeletal muscle.
Marchioretti C, Zanetti G, Pirazzini M, Gherardi G, Nogara L, Andreotti R, Martini P, Marcucci L, Canato M, Nath SR, Zuccaro E, Chivet M, Mammucari C, Pacifici M, Raffaello A, Rizzuto R, Mattarei A, Desbats MA, Salviati L, [...] Pennuto M
Nat Commun, 14(1):602, 06 Feb 2023
Cited by: 5 articles | PMID: 36746942 | PMCID: PMC9902403
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OPA1 drives macrophage metabolism and functional commitment via p65 signaling.
Sánchez-Rodríguez R, Tezze C, Agnellini AHR, Angioni R, Venegas FC, Cioccarelli C, Munari F, Bertoldi N, Canton M, Desbats MA, Salviati L, Gissi R, Castegna A, Soriano ME, Sandri M, Scorrano L, Viola A, Molon B
Cell Death Differ, 30(3):742-752, 28 Oct 2022
Cited by: 7 articles | PMID: 36307526 | PMCID: PMC9984365
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Cholesterol Metabolic Reprogramming in Cancer and Its Pharmacological Modulation as Therapeutic Strategy.
Giacomini I, Gianfanti F, Desbats MA, Orso G, Berretta M, Prayer-Galetti T, Ragazzi E, Cocetta V
Front Oncol, 11:682911, 24 May 2021
Cited by: 51 articles | PMID: 34109128 | PMCID: PMC8181394
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Molecular and Cellular Studies Reveal Folding Defects of Human Ornithine Aminotransferase Variants Associated With Gyrate Atrophy of the Choroid and Retina.
Montioli R, Sgaravizzi G, Desbats MA, Grottelli S, Voltattorni CB, Salviati L, Cellini B
Front Mol Biosci, 8:695205, 30 Jul 2021
Cited by: 2 articles | PMID: 34395527 | PMCID: PMC8360850
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New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQ₁₀ deficiency in muscle or skin fibroblasts.
Mero S, Salviati L, Leuzzi V, Rubegni A, Calderan C, Nardecchia F, Galatolo D, Desbats MA, Naef V, Gemignani F, Novelli M, Tessa A, Battini R, Santorelli FM, Marchese M
J Neurol, 268(9):3381-3389, 11 Mar 2021
Cited by: 17 articles | PMID: 33704555
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Epiregulation of the SASP makes good neighbors.
Desbats MA, Zumerle S, Alimonti A
Nat Aging, 1(5):420-421, 01 May 2021
Cited by: 2 articles | PMID: 37118016
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The pyruvate kinase activator mitapivat reduces hemolysis and improves anemia in a β-thalassemia mouse model.
Matte A, Federti E, Kung C, Kosinski PA, Narayanaswamy R, Russo R, Federico G, Carlomagno F, Desbats MA, Salviati L, Leboeuf C, Valenti MT, Turrini F, Janin A, Yu S, Beneduce E, Ronseaux S, Iatcenko I, Dang L, [...] De Franceschi L
J Clin Invest, 131(10):144206, 01 May 2021
Cited by: 24 articles | PMID: 33822774 | PMCID: PMC8121526
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Deficit of human ornithine aminotransferase in gyrate atrophy: Molecular, cellular, and clinical aspects.
Montioli R, Bellezza I, Desbats MA, Borri Voltattorni C, Salviati L, Cellini B
Biochim Biophys Acta Proteins Proteom, 1869(1):140555, 14 Oct 2020
Cited by: 21 articles | PMID: 33068755
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The multiple roles of coenzyme Q in cellular homeostasis and their relevance for the pathogenesis of coenzyme Q deficiency.
Baschiera E, Sorrentino U, Calderan C, Desbats MA, Salviati L
Free Radic Biol Med, 166:277-286, 03 Mar 2021
Cited by: 22 articles | PMID: 33667628
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Hybrid Minigene Assay: An Efficient Tool to Characterize mRNA Splicing Profiles of NF1 Variants.
Morbidoni V, Baschiera E, Forzan M, Fumini V, Ali DS, Giorgi G, Buson L, Desbats MA, Cassina M, Clementi M, Salviati L, Trevisson E
Cancers (Basel), 13(5):999, 27 Feb 2021
Cited by: 8 articles | PMID: 33673681 | PMCID: PMC7957615
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Metabolic Plasticity in Chemotherapy Resistance.
Desbats MA, Giacomini I, Prayer-Galetti T, Montopoli M
Front Oncol, 10:281, 06 Mar 2020
Cited by: 77 articles | PMID: 32211323 | PMCID: PMC7068907
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Vanillic Acid Restores Coenzyme Q Biosynthesis and ATP Production in Human Cells Lacking COQ6.
Acosta Lopez MJ, Trevisson E, Canton M, Vazquez-Fonseca L, Morbidoni V, Baschiera E, Frasson C, Pelosi L, Rascalou B, Desbats MA, Alcázar-Fabra M, Ríos JJ, Sánchez-García A, Basso G, Navas P, Pierrel F, Brea-Calvo G, Salviati L
Oxid Med Cell Longev, 2019:3904905, 10 Jul 2019
Cited by: 22 articles | PMID: 31379988 | PMCID: PMC6652073
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Molecular and cellular basis of ornithine δ-aminotransferase deficiency caused by the V332M mutation associated with gyrate atrophy of the choroid and retina.
Montioli R, Desbats MA, Grottelli S, Doimo M, Bellezza I, Borri Voltattorni C, Salviati L, Cellini B
Biochim Biophys Acta Mol Basis Dis, 1864(11):3629-3638, 26 Aug 2018
Cited by: 7 articles | PMID: 30251682
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COX16 is required for assembly of cytochrome c oxidase in human cells and is involved in copper delivery to COX2.
Cerqua C, Morbidoni V, Desbats MA, Doimo M, Frasson C, Sacconi S, Baldoin MC, Sartori G, Basso G, Salviati L, Trevisson E
Biochim Biophys Acta Bioenerg, 1859(4):244-252, 03 Feb 2018
Cited by: 15 articles | PMID: 29355485
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Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function.
Vazquez Fonseca L, Doimo M, Calderan C, Desbats MA, Acosta MJ, Cerqua C, Cassina M, Ashraf S, Hildebrandt F, Sartori G, Navas P, Trevisson E, Salviati L
Hum Mutat, 39(3):406-414, 18 Dec 2017
Cited by: 25 articles | PMID: 29194833 | PMCID: PMC5838795
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Coenzyme Q biosynthesis in health and disease.
Acosta MJ, Vazquez Fonseca L, Desbats MA, Cerqua C, Zordan R, Trevisson E, Salviati L
Biochim Biophys Acta, 1857(8):1079-1085, 07 Apr 2016
Cited by: 115 articles | PMID: 27060254
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Age-Associated Loss of OPA1 in Muscle Impacts Muscle Mass, Metabolic Homeostasis, Systemic Inflammation, and Epithelial Senescence.
Tezze C, Romanello V, Desbats MA, Fadini GP, Albiero M, Favaro G, Ciciliot S, Soriano ME, Morbidoni V, Cerqua C, Loefler S, Kern H, Franceschi C, Salvioli S, Conte M, Blaauw B, Zampieri S, Salviati L, Scorrano L, Sandri M
Cell Metab, 25(6):1374-1389.e6, 25 May 2017
Cited by: 289 articles | PMID: 28552492 | PMCID: PMC5462533
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Increased mitophagy in the skeletal muscle of spinal and bulbar muscular atrophy patients.
Borgia D, Malena A, Spinazzi M, Desbats MA, Salviati L, Russell AP, Miotto G, Tosatto L, Pegoraro E, Sorarù G, Pennuto M, Vergani L
Hum Mol Genet, 26(6):1087-1103, 01 Mar 2017
Cited by: 29 articles | PMID: 28087734 | PMCID: PMC5409076
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1-25 of 35 results

1 2

Search life-sciences literature (45,104,145 articles, preprints and more)

Search results

Characterization of Two Novel PNKP Splice-Site Variants in a Proband With Microcephaly, Intellectual Disability, and Multiple Malformations.

A yeast based assay establishes the pathogenicity of novel missense ACTA2 variants associated with aortic aneurysms.

Retinoic acid receptor activation reprograms senescence response and enhances anti-tumor activity of natural killer cells.

COQ4 is required for the oxidative decarboxylation of the C1 carbon of coenzyme Q in eukaryotic cells.

COQ4 is required for the oxidative decarboxylation of the C1 carbon of Coenzyme Q in eukaryotic cells

Distal hereditary motor neuropathy caused by coenzyme Q deficiency due to COQ7 variants.

Mitochondrial DNA released by senescent cells triggers immunosuppression in cancer

Defective excitation-contraction coupling and mitochondrial respiration precede mitochondrial Ca²⁺ accumulation in spinobulbar muscular atrophy skeletal muscle.

OPA1 drives macrophage metabolism and functional commitment via p65 signaling.

Cholesterol Metabolic Reprogramming in Cancer and Its Pharmacological Modulation as Therapeutic Strategy.

Molecular and Cellular Studies Reveal Folding Defects of Human Ornithine Aminotransferase Variants Associated With Gyrate Atrophy of the Choroid and Retina.

New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQ₁₀ deficiency in muscle or skin fibroblasts.

Epiregulation of the SASP makes good neighbors.

The pyruvate kinase activator mitapivat reduces hemolysis and improves anemia in a β-thalassemia mouse model.

Deficit of human ornithine aminotransferase in gyrate atrophy: Molecular, cellular, and clinical aspects.

The multiple roles of coenzyme Q in cellular homeostasis and their relevance for the pathogenesis of coenzyme Q deficiency.

Hybrid Minigene Assay: An Efficient Tool to Characterize mRNA Splicing Profiles of NF1 Variants.

Metabolic Plasticity in Chemotherapy Resistance.

Vanillic Acid Restores Coenzyme Q Biosynthesis and ATP Production in Human Cells Lacking COQ6.

Molecular and cellular basis of ornithine δ-aminotransferase deficiency caused by the V332M mutation associated with gyrate atrophy of the choroid and retina.

COX16 is required for assembly of cytochrome c oxidase in human cells and is involved in copper delivery to COX2.

Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function.

Coenzyme Q biosynthesis in health and disease.

Age-Associated Loss of OPA1 in Muscle Impacts Muscle Mass, Metabolic Homeostasis, Systemic Inflammation, and Epithelial Senescence.

Increased mitophagy in the skeletal muscle of spinal and bulbar muscular atrophy patients.

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