Search Results - "Granata, Alessandra"
-
1
Functional genomics in stroke: current and future applications of iPSCs and gene editing to dissect the function of risk variants
Published in BMC cardiovascular disorders (29-04-2023)“…Stroke is an important disease with unmet clinical need. To uncover novel paths for treatment, it is of critical importance to develop relevant laboratory…”
Get full text
Journal Article -
2
Embryonic origins of human vascular smooth muscle cells: implications for in vitro modeling and clinical application
Published in Cellular and molecular life sciences : CMLS (01-06-2014)“…Vascular smooth muscle cells (SMCs) arise from multiple origins during development, raising the possibility that differences in embryological origins between…”
Get full text
Journal Article -
3
Cerebrovascular Disorders
Published in BMC cardiovascular disorders (28-04-2023)“…Cerebrovascular disorders pose a global health concern. Advances in basic and clinical research, including induced pluripotent stem cell models and multi-omic…”
Get full text
Journal Article -
4
In vitro platform to model the function of ionocytes in the human airway epithelium
Published in Respiratory research (25-04-2024)“…Pulmonary ionocytes have been identified in the airway epithelium as a small population of ion transporting cells expressing high levels of CFTR (cystic…”
Get full text
Journal Article -
5
The Dystonia-associated Protein TorsinA Modulates Synaptic Vesicle Recycling
Published in The Journal of biological chemistry (21-03-2008)“…The loss of a glutamic acid residue in the AAA-ATPase (ATPases associated with diverse cellular activities) torsinA is responsible for most cases of early…”
Get full text
Journal Article -
6
The Histone Deacetylase 9 Stroke-Risk Variant Promotes Apoptosis and Inflammation in a Human iPSC-Derived Smooth Muscle Cells Model
Published in Frontiers in cardiovascular medicine (30-03-2022)“…A common variant in the Histone Deacetylase 9 ( ) gene is the strongest genetic risk for large-vessel stroke, and HDAC9 offers a novel target for therapeutic…”
Get full text
Journal Article -
7
An iPSC-derived vascular model of Marfan syndrome identifies key mediators of smooth muscle cell death
Published in Nature genetics (01-01-2017)“…Sanjay Sinha and colleagues use a vascular model derived from human induced pluripotent stem cells from patients with Marfan syndrome with fibrillin-1…”
Get full text
Journal Article -
8
Evidence of functional redundancy between MID proteins: implications for the presentation of Opitz syndrome
Published in Developmental biology (15-01-2005)“…Opitz G/BBB syndrome (OS) is a congenital defect characterized by hypertelorism and hypospadias, but additional midline malformations are also common in OS…”
Get full text
Journal Article -
9
A Novel Human Pluripotent Stem Cell-Derived Neural Crest Model of Treacher Collins Syndrome Shows Defects in Cell Death and Migration
Published in Stem cells and development (15-01-2019)“…The neural crest (NC) is a transient multipotent cell population present during embryonic development. The NC can give rise to multiple cell types and is…”
Get more information
Journal Article -
10
Global proteomic analysis of extracellular matrix in mouse and human brain highlights relevance to cerebrovascular disease
Published in Journal of cerebral blood flow and metabolism (01-09-2021)“…The extracellular matrix (ECM) is a key interface between the cerebrovasculature and adjacent brain tissues. Deregulation of the ECM contributes to a broad…”
Get full text
Journal Article -
11
A phenotypic screen of Marfan syndrome iPSC-derived vascular smooth muscle cells uncovers GSK3β as a new target
Published in Stem cell reports (14-02-2023)“…Marfan syndrome (MFS) is a rare connective tissue disorder caused by mutations in FBN1. Patients with MFS notably suffer from aortic aneurysm and dissection…”
Get full text
Journal Article -
12
CSN complex controls the stability of selected synaptic proteins via a torsinA-dependent process
Published in The EMBO journal (05-01-2011)“…DYT1 dystonia is caused by an autosomal dominant mutation that leads to a glutamic acid deletion in torsinA (TA), a member of the AAA+ ATPase superfamily. In…”
Get full text
Journal Article -
13
Temporal and embryonic lineage-dependent regulation of human vascular SMC development by NOTCH3
Published in Stem cells and development (01-04-2015)“…Vascular smooth muscle cells (SMCs), which arise from multiple embryonic progenitors, have unique lineage-specific properties and this diversity may contribute…”
Get more information
Journal Article -
14
A novel human iPSC model of COL4A1/A2 small vessel disease unveils a key pathogenic role of matrix metalloproteinases
Published in Stem cell reports (12-12-2023)“…Cerebral small vessel disease (SVD) affects the small vessels in the brain and is a leading cause of stroke and dementia. Emerging evidence supports a role of…”
Get full text
Journal Article -
15
Small vessels, dementia and chronic diseases - molecular mechanisms and pathophysiology
Published in Clinical science (1979) (30-04-2018)“…Cerebral small vessel disease (SVD) is a major contributor to stroke, cognitive impairment and dementia with limited therapeutic interventions. There is a…”
Get more information
Journal Article -
16
TorsinA and dystonia: from nuclear envelope to synapse
Published in Journal of neurochemistry (01-06-2009)“…A GAG deletion in the DYT1 gene is responsible for the autosomal dominant movement disorder, early onset primary torsion dystonia, which is characterised by…”
Get full text
Journal Article -
17
Collagen IV deficiency causes hypertrophic remodeling and endothelium-dependent hyperpolarization in small vessel disease with intracerebral hemorrhage
Published in EBioMedicine (01-09-2024)“…Genetic variants in COL4A1 and COL4A2 (encoding collagen IV alpha chain 1/2) occur in genetic and sporadic forms of cerebral small vessel disease (CSVD), a…”
Get full text
Journal Article -
18
Collagen IV deficiency causes hypertrophic remodeling and endothelium-dependent hyperpolarization in small vessel disease with intracerebral hemorrhageResearch in context
Published in EBioMedicine (01-09-2024)“…Background: Genetic variants in COL4A1 and COL4A2 (encoding collagen IV alpha chain 1/2) occur in genetic and sporadic forms of cerebral small vessel disease…”
Get full text
Journal Article -
19
A Multi-disciplinary Commentary on Preclinical Research to investigate Vascular Contributions to Dementia
Published in Cerebral circulation - cognition and behavior (01-01-2023)“…•Different models recapitulate different aspects of human SVD – the right model should be used to answer the right question•Successful translation requires…”
Get full text
Journal Article -
20
CSN complex controls the stability of selected synaptic proteins via a torsinA-dependent process: Role of the CSN-torsinA complex at the synapse
Published in The EMBO journal (05-01-2011)Get full text
Journal Article