Oxidative Stress in Down and Williams-Beuren Syndromes: An Overview

Genetic dissection of down syndrome-associated alterations in APP/amyloid-β biology using mouse models

(2021) Justin L. Tosh et al.   Scientific Reports

Down syndrome and Alzheimer's disease: common molecular traits beyond the amyloid precursor protein

(2020) Wileidy Gomez et al.   Aging-US

Reactive oxygen species (ROS) as pleiotropic physiological signalling agents

(2020) Helmut Sies et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Targeting increased levels of APP in Down syndrome: Posiphen‐mediated reductions in APP and its products reverse endosomal phenotypes in the Ts65Dn mouse model

(2020) Xu‐Qiao Chen et al.   Alzheimers & Dementia

Metabolism Regulation and Redox State: Insight into the Role of Superoxide Dismutase 1

(2020) Simona Damiano et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Reactive Oxygen Species and Oxidative Stress in the Pathogenesis and Progression of Genetic Diseases of the Connective Tissue

(2020) Gustavo Egea et al.   Antioxidants

The BACH1/Nrf2 Axis in Brain in Down Syndrome and Transition to Alzheimer Disease-Like Neuropathology and Dementia

(2020) Marzia Perluigi et al.   Antioxidants

Dementia in Down syndrome: unique insights for Alzheimer disease research

(2019) Ira T. Lott et al.   Nature Reviews Neurology

Lysosomal dysfunction in Down syndrome is APP-dependent and mediated by APP-βCTF (C99)

(2019) Jiang Ying et al.   JOURNAL OF NEUROSCIENCE

Disturbance of redox homeostasis in Down Syndrome: Role of iron dysmetabolism

(2018) Eugenio Barone et al.   FREE RADICAL BIOLOGY AND MEDICINE

Down syndrome, beta-amyloid and neuroimaging

(2018) Elizabeth Head et al.   FREE RADICAL BIOLOGY AND MEDICINE

Mitochondrial dysfunction in down syndrome: molecular mechanisms and therapeutic targets

(2018) Antonella Izzo et al.   MOLECULAR MEDICINE

Reactive Oxygen Species: Involvement in T Cell Signaling and Metabolism

(2018) Davide G. Franchina et al.   TRENDS IN IMMUNOLOGY

The Impact of APP on Alzheimer-like Pathogenesis and Gene Expression in Down Syndrome iPSC-Derived Neurons

(2018) Dmitry A. Ovchinnikov et al.   Stem Cell Reports

Oxidative stress and the amyloid beta peptide in Alzheimer’s disease

(2018) C. Cheignon et al.   Redox Biology

The 7q11.23 Protein DNAJC30 Interacts with ATP Synthase and Links Mitochondria to Brain Development

(2018) Andrew T.N. Tebbenkamp et al.   CELL

Bach1: Function, Regulation, and Involvement in Disease

(2018) Xinyue Zhang et al.   Oxidative Medicine and Cellular Longevity

The discovery of Alzheimer-causing mutations in the APP gene and the formulation of the “amyloid cascade hypothesis”

(2017) John Hardy   FEBS Journal

HNE-modified proteins in Down syndrome: Involvement in development of Alzheimer disease neuropathology

(2017) Eugenio Barone et al.   FREE RADICAL BIOLOGY AND MEDICINE

Coenzyme Q10 and pro-inflammatory markers in children with Down syndrome: clinical and biochemical aspects

(2017) Moushira E. Zaki et al.   Jornal de Pediatria

Screening of potential biomarkers for prenatal diagnosis of trisomy 21

(2016) Ke Ma et al.   JOURNAL OF OBSTETRICS AND GYNAECOLOGY

A genetic cause of Alzheimer disease: mechanistic insights from Down syndrome

(2015) Frances K. Wiseman et al.   NATURE REVIEWS NEUROSCIENCE

Redox proteomics analysis to decipher the neurobiology of Alzheimer-like neurodegeneration: overlaps in Down's syndrome and Alzheimer's disease brain

(2014) D. Allan Butterfield et al.   BIOCHEMICAL JOURNAL

Heterozygous deletion of the Williams–Beuren syndrome critical interval in mice recapitulates most features of the human disorder

(2014) Maria Segura-Puimedon et al.   HUMAN MOLECULAR GENETICS

Oxidative Stress and Mitochondrial Dysfunction across Broad-Ranging Pathologies: Toward Mitochondria-Targeted Clinical Strategies

(2014) Giovanni Pagano et al.   Oxidative Medicine and Cellular Longevity

Adaptive Downregulation of Mitochondrial Function in Down Syndrome

(2013) Pablo Helguera et al.   Cell Metabolism

Williams Syndrome Predisposes to Vascular Stiffness Modified by Antihypertensive Use and Copy Number Changes in NCF1

(2013) Beth A. Kozel et al.   HYPERTENSION

Chronic pro-oxidative state and mitochondrial dysfunctions are more pronounced in fibroblasts from Down syndrome foeti with congenital heart defects

(2012) C. Piccoli et al.   HUMAN MOLECULAR GENETICS

Reduction of NADPH-Oxidase Activity Ameliorates the Cardiovascular Phenotype in a Mouse Model of Williams-Beuren Syndrome

(2012) Victoria Campuzano et al.   PLoS Genetics

Redox Proteomics in Selected Neurodegenerative Disorders: From Its Infancy to Future Applications

(2011) D. Allan Butterfield et al.   ANTIOXIDANTS & REDOX SIGNALING

Mitochondrial dysfunction and Down's syndrome: Is there a role for coenzyme Q10?

(2011) Luca Tiano et al.   BIOFACTORS

Oxidases and peroxidases in cardiovascular and lung disease: New concepts in reactive oxygen species signaling

(2011) Imad Al Ghouleh et al.   FREE RADICAL BIOLOGY AND MEDICINE

Genetic Modifiers of Cardiovascular Phenotype Caused by Elastin Haploinsufficiency Act by Extrinsic Noncomplementation

(2011) Beth A. Kozel et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Pulmonary function and emphysema in Williams-Beuren syndrome

(2010) Emily S. Wan et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Mitochondrial dysfunction in some oxidative stress-related genetic diseases: Ataxia-Telangiectasia, Down Syndrome, Fanconi Anaemia and Werner Syndrome

(2010) Federico V. Pallardó et al.   BIOGERONTOLOGY

Williams–Beuren Syndrome

(2010) Barbara R. Pober   NEW ENGLAND JOURNAL OF MEDICINE

NADPH Oxidases: Functions and Pathologies in the Vasculature

(2009) Bernard Lassègue et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

Oxidative Stress and Neurodegenerative Diseases: A Review of Upstream and Downstream Antioxidant Therapeutic Options

(2009) Bayani Uttara et al.   Current Neuropharmacology

S100B's double life: Intracellular regulator and extracellular signal

(2008) Rosario Donato et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH