Lista de obras - Sabrina Dusi - Dominio Público Uruguay

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

artículo científico publicado en 2018

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

artículo científico publicado en 2010

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

artículo científico publicado en 2011

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

article

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

artículo científico publicado en 2014

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

artículo científico publicado en 2008

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

artículo científico publicado en 2012

COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency

artículo científico publicado en 2015

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

artículo científico publicado en 2016

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

artículo científico publicado en 2014

Gene-specific mitochondria dysfunctions in human TARDBP and C9ORF72 fibroblasts.

artículo científico publicado en 2016

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

artículo científico publicado en 2011

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

artículo científico publicado en 2009

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

artículo científico publicado en 2012

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

scientific journal article

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

artículo científico publicado en 2017

Lista de obras de Sabrina Dusi

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

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

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

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

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

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

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

COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency

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

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

Gene-specific mitochondria dysfunctions in human TARDBP and C9ORF72 fibroblasts.

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

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

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

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

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

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

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

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