Antonella Rendina
A5042915373- Glycosylation and Glycoproteins Research
- Alzheimer's disease research and treatments
- Neurological diseases and metabolism
- Protein Tyrosine Phosphatases
- Epigenetics and DNA Methylation
- Neuroinflammation and Neurodegeneration Mechanisms
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Amyotrophic Lateral Sclerosis Research
- Neurogenetic and Muscular Disorders Research
National Research Council
2020-2022
Institute of Protein Biochemistry
2022
Institute of Cell Biology and Neurobiology
2020
National Hospital for Neurology and Neurosurgery
2020
University College London
2020
The CD33 gene encodes for a member of the sialic-acid-binding immunoglobulin-type lectin (Siglec) family, and is one top-ranked Alzheimer’s disease (AD) risk genes identified by genome-wide association studies (GWAS). Many polymorphisms are associated with an increased AD, but function potential mechanism many single-nucleotide (SNPs) in promoting AD have yet to be elucidated. We recently SNP rs2455069-A>G (R69G) familial form dementia. Here, we demonstrate between G allele rs2455069 variant...
Abstract Sialic acid-binding immunoglobulin-type lectins, which are predominantly expressed in immune cells, represent a family of immunomodulatory receptors with inhibitory and activating signals, both healthy disease states. Genetic factors important all forms dementia, especially early onset dementia. CD33 was recently recognized as genetic risk factor for Alzheimer (AD). Here, we present 2-generation 4 members, the father 3 siblings, characterized by an form unusual dementia exhibiting...
We sought to characterize C9orf72 expansions in relation genetic ancestry and age at onset (AAO) use these measures discriminate the behavioral from language variant syndrome a large pan-European cohort of frontotemporal lobar degeneration (FTLD) cases.We evaluated frequency entire (n = 1,396; dementia [bvFTD] [n 800], primary progressive aphasia [PPA] 495], FTLD-motor neuron disease [MND] 101]). then focused on bvFTD PPA cases tested for association between expansion status, syndromes,...
Background:Mutations in the GRN gene are causative for an autosomal dominant form of frontotemporal dementia. Objective/Methods:The objective present study is to describe clinical and molecular features three siblings harboring deletion NM_002087.3:c.295_308delTGCCCACGGGGCTT, p.(C ys99Profs*15) identified with next generation sequencing. Results:Our patients demonstrated heterogeneous phenotypes, such as progressive supranuclear palsy-like proband behavioral variant dementia two affected...