S. Dusi

发表

Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation.

T. Wieland, T. Strom, V. Tiranti, 2014, American journal of human genetics.

Platinum-induced mitochondrial DNA mutations confer lower sensitivity to paclitaxel by impairing tubulin cytoskeletal organization

V. Tiranti, C. Bucci, A. Perrone, 2017, Human molecular genetics.

Gene-specific mitochondria dysfunctions in human TARDBP and C9ORF72 fibroblasts

V. Tiranti, A. Ratti, V. Silani, 2016, Acta neuropathologica communications.

CHARACTERIZATION OF DISEASE GENES IN NEURODEGENERATION WITH BRAIN IRON ACCUMULATION

S. Dusi, 2015 .

Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model

V. Tiranti, O. Sibon, C. Lamperti, 2013, Brain : a journal of neurology.

Alteration of the coenzyme A biosynthetic pathway in neurodegeneration with brain iron accumulation syndromes.

V. Tiranti, S. Dusi, L. Valletta, 2014, Biochemical Society transactions.

C19orf12 and FA2H mutations are rare in Italian patients with neurodegeneration with brain iron accumulation.

V. Tiranti, N. Nardocci, L. Chiapparini, 2012, Seminars in pediatric neurology.

Are Rare in Italian Patients With Neurodegeneration With Brain Iron Accumulation

V. Tiranti, N. Nardocci, L. Chiapparini, 2012 .

Rad51-mediated replication of damaged templates relies on monoSUMOylated DDK kinase

M. Giannattasio, D. Branzei, S. Dusi, 2022, Nature communications.

Lack of association between interleukin-1 alpha rs1800587 polymorphism and Alzheimer's disease in two Independent European samples.

L. Polito, A. Serretti, G. Papadimitriou, 2009, Journal of Alzheimer's disease : JAD.

Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations.

V. Mootha, V. Tiranti, C. Clish, 2012, Molecular genetics and metabolism.

Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model

V. Tiranti, D. Brunetti, G. d’Amati, 2012, Human molecular genetics.

Gene-specific mitochondria dysfunctions in human TARDBP and C9ORF72 fibroblasts

V. Tiranti, A. Ratti, V. Silani, 2016, Acta neuropathologica communications.

Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation.

M. Elstner, T. Meitinger, T. Strom, 2011, American journal of human genetics.

COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency

E. Bertini, T. Meitinger, T. Strom, 2015, American journal of human genetics.

AND-1 fork protection function prevents fork resection and is essential for proliferation

K. Hirota, M. Giannattasio, Ryota Kawasumi, 2018, Nature Communications.

Parental histone deposition on the replicated strands promotes error-free DNA damage tolerance and regulates drug resistance

M. Giannattasio, D. Branzei, S. Dusi, 2022, Genes & development.

Mitochondrial iron and energetic dysfunction distinguish fibroblasts and induced neurons from pantothenate kinase-associated neurodegeneration patients

V. Tiranti, V. Broccoli, B. Garavaglia, 2015, Neurobiology of Disease.

Modeling human Coenzyme A synthase mutation in yeast reveals altered mitochondrial function, lipid content and iron metabolism

V. Tiranti, P. Goffrini, C. Dallabona, 2015, Microbial cell.

AND-1 fork protection function prevents fork resection and is essential for proliferation

K. Hirota, M. Giannattasio, Ryota Kawasumi, 2018, Nature Communications.

Rad51-mediated replication of damaged templates relies on monoSUMOylated DDK kinase

M. Giannattasio, D. Branzei, S. Dusi, 2022, Nature Communications.

Interleukin-1α, interleukin-1β and tumor necrosis factor-α genetic variants and risk of dementia in the very old: evidence from the “Monzino 80-plus” prospective study

L. Polito, G. Forloni, D. Albani, 2012, AGE.

APOE epsilon‐4 allele and cytokine production in Alzheimer's disease

L. Polito, A. Serretti, G. Forloni, 2010, International journal of geriatric psychiatry.

Alteration of mitochondrial membrane inner potential in three Italian patients with megaconial congenital muscular dystrophy carrying new mutations in CHKB gene.

V. Tiranti, E. Lamantea, F. Blàsevich, 2019, Mitochondrion.

Coenzyme A corrects pathological defects in human neurons of PANK2‐associated neurodegeneration

V. Tiranti, M. Ferrari, S. Taverna, 2016, EMBO molecular medicine.

Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model

V. Tiranti, D. Brunetti, G. d’Amati, 2012 .

Association study to evaluate the serotonin transporter and apolipoprotein E genes in frontotemporal lobar degeneration in Italy

L. Polito, C. Mariani, D. Galimberti, 2008, Journal of Human Genetics.