Andreina Bordoni

University of Milan — Italy

Biochemistry, Genetics and Molecular Biology · Life Sciences

37h-index4.5kcitations119works0.02yr avg
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Research Topics

Mitochondrial Function and Pathology(55), Metabolism and Genetic Disorders(45), ATP Synthase and ATPases Research(18), Neurogenetic and Muscular Disorders Research(16), Muscle Physiology and Disorders(15)

Publications118 total

Cell Penetrating peptide-conjugated Morpholino rescues SMA in a symptomatic preclinical model
2020
Relating nutrient intake and clinical parameters in subjects at risk of metabolic syndrome. Preliminary results from a predictive model
2020
TYMP Variants Result in Late-Onset Mitochondrial Myopathy With Altered Muscle Mitochondrial DNA Homeostasis
Frontiers in Genetics·2020· 9 citedOpen Access
Dystonia‐ataxia syndrome with permanent torsional nystagmus caused by ECHS1 deficiency
Annals of Clinical and Translational Neurology·2020· 14 citedOpen Access
Loss of the nucleoporin Aladin in central nervous system and fibroblasts of Allgrove Syndrome
Human Molecular Genetics·2019· 13 citedOpen Access
RNAi/gene therapy combined approach as therapeutic strategy for Charcot-Marie-Tooth 2A (S58.005)
Neurology·2019· 1 cited
Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathy
Parkinsonism & Related Disorders·2019· 26 citedOpen Access
Protocol for Pilot Studies: Effectiveness of Bioactive Enriched Foods (BEF) on markers of Metabolic Syndrome
White Rose Research Online (University of Leeds, The University of Sheffield, University of York)·2019· 3 citedOpen Access
Key role of SMN/SYNCRIP and RNA-Motif 7 in spinal muscular atrophy: RNA-Seq and motif analysis of human motor neurons
Brain·2018· 46 citedOpen Access
Mitochondrial Dysregulation and Impaired Autophagy in iPSC-Derived Dopaminergic Neurons of Multiple System Atrophy
Stem Cell Reports·2018· 60 citedOpen Access
Mitochondrial dysfunction in fibroblasts of Multiple System Atrophy
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease·2018· 38 cited
Glucose-free/high-protein diet improves hepatomegaly and exercise intolerance in glycogen storage disease type III mice
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease·2018· 7 citedOpen Access
Purkinje cell COX deficiency and mtDNA depletion in an animal model of spinocerebellar ataxia type 1
Journal of Neuroscience Research·2018· 20 citedOpen Access
A Subset of Axonal and Synaptic Genes with Altered Expression/Splicing in SMA-MNs Harbours a Common Motif that Interacts with SMN/SYNCRIP Complex (S29.005)
Neurology·2018
A de novo C19orf12 heterozygous mutation in a patient with MPAN
Parkinsonism & Related Disorders·2017· 22 citedOpen Access
Effects of short‐to‐long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD)
Neuropathology and Applied Neurobiology·2017· 32 citedOpen Access
Patients derived cellular models to investigate the pathogenesis and to develop therapies for human disorders caused by acid ceramidase deficiency. (P1.139)
Neurology·2017
Genome-wide RNA-seq of iPSC-derived motor neurons indicates selective cytoskeletal perturbation in Brown–Vialetto disease that is partially rescued by riboflavin
Scientific Reports·2017· 29 citedOpen Access
Selective mitochondrial depletion, apoptosis resistance, and increased mitophagy in human Charcot-Marie-Tooth 2A motor neurons
Human Molecular Genetics·2016· 57 citedOpen Access
Morpholino-mediated SOD1 reduction ameliorates an amyotrophic lateral sclerosis disease phenotype
Scientific Reports·2016· 32 citedOpen Access
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Frequent Co-authors

Giacomo P. Comi(47), Nereo Bresolin(40), Maurizio Moggio(27), Stefania Corti(25), Francesco Fortunato(21), Dario Ronchi(20), Monica Sciacco(18), Sabrina Salani(15), Roberto Del Bo(15), A. Prelle(12), G. Scarlato(10), Marco Crimi(10), Monica Nizzardo(9), Valeria Lucchini(8), Alessio Di Fonzo(8), Sara Galbiati(8), António Toscano(7), A. Papadimitriou(7), Patrizia Ciscato(7), Francesca Magri(6)