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Works (13)

A Zebrafish Model to study RRAGD variants associated Cardiomyopathy

American Journal of Physiology-Heart and Circulatory Physiology
2024-10-25 | Journal article
Part of ISSN: 0363-6135
Part of ISSN: 1522-1539
Contributors: Irene Sambri; Francesco Trepiccione
Source: Self-asserted source
Irene Sambri

Ragopathies and the rising influence of RagGTPases on human diseases

Nature Communications
2024-07-10 | Journal article
Contributors: Irene Sambri; Marco Ferniani; Andrea Ballabio
Source: check_circle
Crossref

RRAGD-associated autosomal dominant kidney hypomagnesemia with cardiomyopathy (ADKH-RRAGD): a review on the clinical manifestations and therapeutic options.

Kidney & blood pressure research
2024-06-20 | Journal article
Contributors: Trepiccione F; Sambri I; Ruggiero B; Emma F; Ballabio A; Florio G; Vanderheyden I; Iervolino A; Jouret F
Source: Self-asserted source
Irene Sambri

The SGLT2 inhibitor dapagliflozin improves kidney function in glycogen storage disease XI

Science Translational Medicine
2023-11 | Journal article | Author
Part of ISSN: 1946-6234
Part of ISSN: 1946-6242
Contributors: Francesco Trepiccione; Anna Iervolino; MARIAVITTORIA D'ACIERNO; Sabrina Siccardi; VINCENZO COSTANZO; Donato Sardella; Luigi Regenburgh De La Motte; Luciano D'Apolito; Antonio Miele; Alessandra PERNA et al.
Source: Self-asserted source
Irene Sambri

RagD auto-activating mutations impair MiT/TFE activity in kidney tubulopathy and cardiomyopathy syndrome

Nature Communications
2023-05-15 | Journal article
Contributors: Irene Sambri; Marco Ferniani; Giulia Campostrini; Marialuisa Testa; Viviana Meraviglia; Mariana E. G. de Araujo; Ladislav Dokládal; Claudia Vilardo; Jlenia Monfregola; Nicolina Zampelli et al.
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Crossref

Current methods to analyse lysosome morphology, positioning, motility and function

Traffic
2022-03-28 | Journal article
Part of ISSN: 1398-9219
Part of ISSN: 1600-0854
Source: Self-asserted source
Irene Sambri

Impaired flickering of the permeability transition pore causes SPG7 spastic paraplegia

EBioMedicine
2020-11 | Journal article
Part of ISSN: 2352-3964
Source: Self-asserted source
Irene Sambri

The amyloid self-assembly inhibitor CLR01 relieves autophagy and ameliorates neuropathology in a severe lysosomal storage disease

Molecular Therapy
2020-02 | Journal article
Part of ISSN: 1525-0016
Source: Self-asserted source
Irene Sambri

m-AAA and i-AAA complexes coordinate to regulate OMA1, the stress-activated supervisor of mitochondrial dynamics

Journal of Cell Science
2018-04-01 | Journal article
Contributors: Francesco Consolato; Francesca Maltecca; Susanna Tulli; Irene Sambri; Giorgio Casari
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Crossref

Lysosomal dysfunction disrupts presynaptic maintenance and restoration of presynaptic function prevents neurodegeneration in lysosomal storage diseases.

EMBO molecular medicine
2017-01 | Journal article
Source: Self-asserted source
Irene Sambri via Europe PubMed Central

Lysosomal dysfunction in neurodegenerative diseases

Advances in Clinical Neuroscience & Rehabilitation
2015 | Journal article
Part of ISSN: 1473-9348
Part of ISSN: 2397-267X
Contributors: Irene Sambri; Alessandro Fraldi
Source: Self-asserted source
Irene Sambri

miR-17 and -20a Target the Neuron-Derived Orphan Receptor-1 (NOR-1) in Vascular Endothelial Cells.

PloS one
2015 | Journal article
Source: Self-asserted source
Irene Sambri via Europe PubMed Central

A highly secreted sulphamidase engineered to cross the blood-brain barrier corrects brain lesions of mice with mucopolysaccharidoses type IIIA.

EMBO molecular medicine
2013-05 | Journal article
Source: Self-asserted source
Irene Sambri via Europe PubMed Central