Angelica D'Amore

Angelica D'Amore
Boston Children's Hospital ·  Department of Neurology

PhD in Molecular Medicine

About

21
Publications
2,390
Reads
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191
Citations
Citations since 2016
21 Research Items
190 Citations
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20162017201820192020202120220204060
20162017201820192020202120220204060
20162017201820192020202120220204060
Introduction
Angelica is a PhD in Molecular Medicine, with a previous degree in Medical Biotecnhology. She's currently a PostDoc Research Fellow and a Research Lab Manager and she is working on HSP, in particular AP4-related forms, at Boston Children's Hospital (Sahin Lab- Dr Darius Ebrahimi-Fakhari supervision) and other neurodegenerative disorders using TSC2 and PTEN mice models. Main projects involve generation of a CRISPR-Cas9 in-vivo model using zebrafish and neuronal cultures dissociation from rodents.
Additional affiliations
October 2019 - present
IRCCS Fondazione Stella Maris
Position
  • Consultant
Education
October 2016 - September 2019
Università degli Studi di Siena
Field of study
  • Molecular Medicine
November 2013 - October 2015
Università degli Studi di Messina
Field of study
  • Medical Biotechnology
November 2010 - October 2013
Università degli Studi di Messina
Field of study
  • Biotechnology

Publications

Publications (21)
Article
Full-text available
Hereditary spastic paraplegia (HSP) refers to a group of genetically heterogeneous neurodegenerative motor neuron disorders characterized by progressive age-dependent loss of corticospinal motor tract function, lower limb spasticity, and weakness. Recent clinical use of next generation sequencing (NGS) methodologies suggests that they facilitate th...
Poster
The hereditary spastic paraplegias (HSP) are a group of over 80 different neurogenetic disorders and the most common cause of inherited spasticity and associated disability. Childhood-onset forms of HSP often pose a diagnostic challenge given their non-specific clinical presentation and slow progression in many cases. Next generation sequencing has...
Article
Full-text available
Adaptor protein complex 4 (AP-4)-associated hereditary spastic paraplegia is caused by biallelic loss-of-function variants in AP4B1, AP4M1, AP4E1 or AP4S1, which constitute the four subunits of this obligate complex. While the diagnosis of AP-4-associated hereditary spastic paraplegia relies on molecular testing, the interpretation of novel missens...
Article
Full-text available
Background and Objectives AP-4-associated hereditary spastic paraplegia (AP-4-HSP: SPG47, SPG50, SPG51, SPG52) is an emerging cause of childhood-onset hereditary spastic paraplegia and mimic of cerebral palsy. This study aims to define the spectrum of brain MRI findings in AP-4-HSP and to investigate radio-clinical correlations. Methods A systemat...
Article
Full-text available
Biallelic loss-of-function variants in the subunits of the adaptor protein complex 4 lead to childhood-onset hereditary spastic paraplegia (AP-4-HSP): SPG47 (AP4B1), SPG50 (AP4M1), SPG51 (AP4E1), and SPG52 (AP4S1). Here, we describe the generation of induced pluripotent stem cells (iPSCs) from three AP-4-HSP patients with biallelic, loss-of-functio...
Article
Full-text available
Objective Uniparental isodisomy can lead to blended phenotypes of imprinting disorders and autosomal recessive diseases. To determine whether a complex neurodevelopmental disorder was caused by uniparental isodisomy, a detailed clinical and molecular characterization was performed. Methods A combination of clinical, molecular, and imaging data and...
Article
Bi-allelic loss-of-function variants in genes that encode subunits of the adaptor protein complex 4 (AP-4) lead to prototypical yet poorly understood forms of childhood-onset and complex hereditary spastic paraplegia: SPG47 (AP4B1), SPG50 (AP4M1), SPG51 (AP4E1) and SPG52 (AP4S1). Here, we report a detailed cross-sectional analysis of clinical, imag...
Article
Full-text available
Autosomal recessive spastic paraplegia 52 is caused by biallelic mutations in AP4S1 which encodes a subunit of the adaptor protein complex 4 (AP‐4). Using next‐generation sequencing, we identified three novel unrelated SPG52 patients from a cohort of patients with cerebral palsy. The discovered variants in AP4S1 lead to reduced AP‐4 complex formati...
Article
Full-text available
ERLIN2‐related disorders are rare conditions of the motor system and clinical details are limited to a small number of prior descriptions. We here presented clinical and genetic details in five individuals (four different families) where three subjects carried a common homozygous p.Asn292ArgfsX26, associated also with sensorineural hearing loss in...
Article
Deficiency of the adaptor protein complex 4 (AP-4) leads to childhood-onset hereditary spastic paraplegia (AP-4-HSP): SPG47 (AP4B1), SPG50 (AP4M1), SPG51 (AP4E1) and SPG52 (AP4S1). This study aims to evaluate the impact of loss-of-function variants in AP-4 subunits on intracellular protein trafficking using patient-derived cells. We investigated 15...
Article
Full-text available
Hereditary spastic paraplegia (HSP) and hereditary ataxia (HA) are two groups of disorders characterized, respectively, by progressive dysfunction or degeneration of the pyramidal tracts (HSP) and of the Purkinje cells and spinocerebellar tracts (HA). Although HSP and HA are generally shown to have distinct clinical-genetic profiles, in several cas...
Article
Background Spastic paraplegia type 8 (SPG8) is an autosomal-dominant form of hereditary spastic paraplegia (AD-HSP) caused by a mutation in the KIAA0196 gene. SPG8 accounts for 1% of less of all AD-HSP and the genotype–phenotype correlation remains poorly understood. Methods We report the first clinical and genetic description of SPG8 disease in I...
Article
Full-text available
Bi-allelic variants in the subunits of the adaptor protein complex 4 lead to childhood-onset, complex hereditary spastic paraplegia (AP-4-HSP): SPG47 (AP4B1), SPG50 (AP4M1), SPG51 (AP4E1), and SPG52 (AP4S1). Here, we describe the generation of induced pluripotent stem cells (iPSCs) from three AP-4-HSP patients with compound-heterozygous, loss-of-fu...
Data
Histogram listing genes with variants of unknown significance and the numbers of cases harboring each one, starting from the least frequently mutated (n = 1) to the most commonly mutated ones (SPG11,n = 11; SACS and AP5Z1, each, n = 9; LYST, n = 8).
Data
List of genes associated with hereditary spastic paraplegia and included in the targeted resequencing gene panel.
Data
Main clinical features in patients molecularly undefined.
Data
Histogram listing mutated genes and the numbers of cases harboring each mutation, starting from the least frequently mutated genes (n = 1) to the most commonly mutated one, SPAST (n = 8).
Article
Background and purpose: Diabetic subjects with non-healing ulcers have a reduced expression of vascular endothelial growth factor (VEGF). Genetically diabetic mice have an altered expression pattern of VEGF and its receptor, VEGFR-2. In diabetic wounds, miR15b and miR200b which respectively inhibit VEGF and VEGF-R2 mRNAs are up-regulated, further...
Article
Full-text available
Glucocorticoid-induced osteoporosis (GIO) is a secondary cause of bone loss. Bisphosphonates approved for GIO, might induce jaw osteonecrosis; thus additional therapeutics are required. Adenosine receptor agonists are positive regulators of bone remodeling, thus the efficacy of adenosine receptor stimulation for treating GIO was tested. In a preven...

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