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  1. Book: Mitochondrial Diseases

    Salviati, Leonardo / Navas, Placido

    Theory, Diagnosis and Therapy

    2021  

    Author's details Plácido Navas obtained the PhD at the University of Seville, Spain. He developed a Fulbright postdoc with J. D. Morré and F. L. Crane at Purdue University, Indiana. After a period of Associate Professor at the University of Cordoba, he became Professor of Cell Biology at the University Pablo de Olavide, Seville, principal investigator at the Centro de Investigación Biomédicaen Red (CIBER) of Rare Diseases, and he is the current Director of the Andalussian Center for Developmental Biology (CABD). His research has focused on the coenzyme Q homeostasis in respiratory chain and aging, and on the molecular diagnosis of coenzyme Q deficiency syndrome. § Leonardo Salviati obtained his MD and PhD degrees at the University of Padova in Italy. After a postdoctoral fellowship in the labs of Salvatore Di Mauro and Eric Schon at Columbia University in New York, he was recruited by the department of Pediatrics of the University of Padova, where he is currently professor of Medical Genetics, and d
    Keywords mitochondrialDNA ; humangenome ; MitochondrialDiseases ; respiratorychain ; CoenzymeQdeficiency ; Genomesequencing ; Mitochondrial DNA ; Human genome ; Mitochondrial diseases ; Respiratory chain ; Coenzyme Q deficiency ; Genome sequencing
    Language English
    Size 312 p.
    Edition 1
    Publisher Springer International Publishing
    Document type Book
    Note PDA Manuell_11
    Format 160 x 241 x 23
    ISBN 9783030701468 ; 3030701468
    Database PDA

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  2. Article ; Online: Distal hereditary motor neuropathy caused by coenzyme Q deficiency due to COQ7 variants.

    Desbats, Maria Andrea / Salviati, Leonardo

    Brain : a journal of neurology

    2023  Volume 146, Issue 10, Page(s) 3958–3959

    MeSH term(s) Humans ; Mitochondrial Diseases/genetics ; Ubiquinone ; Motor Neurons
    Chemical Substances ubiquinone 7 (RRK47DEG6Q) ; Ubiquinone (1339-63-5)
    Language English
    Publishing date 2023-09-06
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Comment
    ZDB-ID 80072-7
    ISSN 1460-2156 ; 0006-8950
    ISSN (online) 1460-2156
    ISSN 0006-8950
    DOI 10.1093/brain/awad302
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  3. Article ; Online: A yeast based assay establishes the pathogenicity of novel missense ACTA2 variants associated with aortic aneurysms.

    Calderan, Cristina / Sorrentino, Ugo / Persano, Luca / Trevisson, Eva / Sartori, Geppo / Salviati, Leonardo / Desbats, Maria Andrea

    European journal of human genetics : EJHG

    2024  

    Abstract: The ACTA2 gene codes for alpha-smooth muscle actin, a critical component of the contractile apparatus of the vascular smooth muscle cells. Autosomal dominant variants in the ACTA2 gene have been associated to familial non-syndromic thoracic aortic ... ...

    Abstract The ACTA2 gene codes for alpha-smooth muscle actin, a critical component of the contractile apparatus of the vascular smooth muscle cells. Autosomal dominant variants in the ACTA2 gene have been associated to familial non-syndromic thoracic aortic aneurysm/dissection (TAAD). They are thought to act through a dominant-negative mechanism. These variants display incomplete penetrance and variable expressivity, complicating the validation of ACTA2 variants pathogenicity by family segregation studies. In this study, we developed a yeast based assay to test putative TAAD-associated ACTA2 variants. We identified five new heterozygous ACTA2 missense variants in TAAD patients through next generation sequencing. We decided to test their pathogenicity in Saccharomyces cerevisiae, since yeast actin is very similar to human alpha-smooth muscle actin, and the residues at which the TAAD-associated variants occur in ACTA2 are well conserved. A wild type yeast strain was transformed with a vector expressing the different mutant alleles, to model the heterozygous condition of patients. Then, we evaluated yeast growth by spot test and cytoskeletal and mitochondrial morphology by fluorescence microscopy. We found that mutant yeast strains displayed only mild growth defects but a significant increase in the percentage of cells with abnormal mitochondrial distribution and abnormal organization of the actin cytoskeleton compared to controls. All variants appeared to interfere with the activity of wild type actin in yeast, suggesting a dominant-negative pathogenic mechanism. Our results demonstrate the utility of using the yeast actin model system to validate the pathogenicity of TAAD-associated ACTA2 variants.
    Language English
    Publishing date 2024-03-15
    Publishing country England
    Document type Journal Article
    ZDB-ID 1141470-4
    ISSN 1476-5438 ; 1018-4813
    ISSN (online) 1476-5438
    ISSN 1018-4813
    DOI 10.1038/s41431-024-01591-1
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  4. Article ; Online: ZFHX4 truncating variant and orofacial clefting.

    Sorrentino, Ugo / Fedrigo, Marny / Calò, Anna Paola / Perin, Martina / Veronese, Paola / Salviati, Leonardo

    American journal of medical genetics. Part A

    2023  Volume 194, Issue 1, Page(s) 115–116

    MeSH term(s) Humans ; Cleft Palate/diagnosis ; Cleft Palate/genetics ; Cleft Lip/diagnosis ; Cleft Lip/genetics ; Transcription Factors ; Homeodomain Proteins
    Chemical Substances ZFHX4 protein, human ; Transcription Factors ; Homeodomain Proteins
    Language English
    Publishing date 2023-07-11
    Publishing country United States
    Document type Letter
    ZDB-ID 2108614-X
    ISSN 1552-4833 ; 0148-7299 ; 1552-4825
    ISSN (online) 1552-4833
    ISSN 0148-7299 ; 1552-4825
    DOI 10.1002/ajmg.a.63353
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  5. Article ; Online: Toll-like receptor 3 pathway deficiency, herpes simplex encephalitis, and anti-NMDAR encephalitis: more questions than answers.

    Sartori, Stefano / Salviati, Leonardo / Nosadini, Margherita

    Pediatric research

    2020  Volume 89, Issue 5, Page(s) 1043

    MeSH term(s) Anti-N-Methyl-D-Aspartate Receptor Encephalitis/genetics ; Child, Preschool ; Encephalitis, Herpes Simplex/genetics ; Female ; Humans ; Male ; Toll-Like Receptor 3/genetics
    Chemical Substances TLR3 protein, human ; Toll-Like Receptor 3
    Language English
    Publishing date 2020-06-17
    Publishing country United States
    Document type Case Reports ; Letter
    ZDB-ID 4411-8
    ISSN 1530-0447 ; 0031-3998
    ISSN (online) 1530-0447
    ISSN 0031-3998
    DOI 10.1038/s41390-020-1018-z
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  6. Article ; Online: The Splicing of the Mitochondrial Calcium Uniporter Genuine Activator MICU1 Is Driven by RBFOX2 Splicing Factor during Myogenic Differentiation.

    Vecellio Reane, Denis / Cerqua, Cristina / Sacconi, Sabrina / Salviati, Leonardo / Trevisson, Eva / Raffaello, Anna

    International journal of molecular sciences

    2022  Volume 23, Issue 5

    Abstract: Alternative splicing, the process by which exons within a pre-mRNA transcript are differentially joined or skipped, is crucial in skeletal muscle since it is required both during myogenesis and in post-natal life to reprogram the transcripts of ... ...

    Abstract Alternative splicing, the process by which exons within a pre-mRNA transcript are differentially joined or skipped, is crucial in skeletal muscle since it is required both during myogenesis and in post-natal life to reprogram the transcripts of contractile proteins, metabolic enzymes, and transcription factors in functionally distinct muscle fiber types. The importance of such events is underlined by the numerosity of pathological conditions caused by alternative splicing aberrations. Importantly, many skeletal muscle Ca
    MeSH term(s) Calcium/metabolism ; Calcium Channels/metabolism ; Calcium-Binding Proteins/genetics ; Calcium-Binding Proteins/metabolism ; Cation Transport Proteins/genetics ; Cation Transport Proteins/metabolism ; Humans ; Mitochondrial Membrane Transport Proteins/genetics ; Mitochondrial Membrane Transport Proteins/metabolism ; Muscle Development/genetics ; RNA Splicing Factors/genetics ; RNA Splicing Factors/metabolism ; Repressor Proteins/genetics ; Repressor Proteins/metabolism
    Chemical Substances Calcium Channels ; Calcium-Binding Proteins ; Cation Transport Proteins ; MICU1 protein, human ; Mitochondrial Membrane Transport Proteins ; RBFOX2 protein, human ; RNA Splicing Factors ; Repressor Proteins ; mitochondrial calcium uniporter ; Calcium (SY7Q814VUP)
    Language English
    Publishing date 2022-02-24
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2019364-6
    ISSN 1422-0067 ; 1422-0067 ; 1661-6596
    ISSN (online) 1422-0067
    ISSN 1422-0067 ; 1661-6596
    DOI 10.3390/ijms23052517
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  7. Article ; Online: Severe trichothiodystrophy and cardiac malformation in a newborn carrying a novel GTF2H5 homozygous truncating variant.

    Sorrentino, Ugo / Agosto, Caterina / Benini, Franca / Bertolin, Cinzia / Cassina, Matteo / Bonadies, Luca / Caroppo, Francesca / Fortina, Anna Belloni / Salviati, Leonardo

    Clinical genetics

    2023  Volume 104, Issue 5, Page(s) 604–606

    Abstract: We report a newborn patient with trichothiodystrophy-3 (TTD3) caused by a novel homozygous variant in the GTF2H5 gene. His severe phenotype included congenital ichthyosis, complex posterior cranial fossa anomaly, life-threatening infections, bilateral ... ...

    Abstract We report a newborn patient with trichothiodystrophy-3 (TTD3) caused by a novel homozygous variant in the GTF2H5 gene. His severe phenotype included congenital ichthyosis, complex posterior cranial fossa anomaly, life-threatening infections, bilateral cryptorchidism, and, notably, a complex cardiac malformation, which is unprecedented in TTD3 patients.
    MeSH term(s) Humans ; Infant, Newborn ; Male ; Homozygote ; Phenotype ; Transcription Factors/genetics ; Trichothiodystrophy Syndromes/genetics
    Chemical Substances GTF2H5 protein, human ; Transcription Factors
    Language English
    Publishing date 2023-06-25
    Publishing country Denmark
    Document type Case Reports ; Letter
    ZDB-ID 221209-2
    ISSN 1399-0004 ; 0009-9163
    ISSN (online) 1399-0004
    ISSN 0009-9163
    DOI 10.1111/cge.14396
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  8. Article ; Online: Mitochondrial cytopathies and the kidney.

    Emma, Francesco / Salviati, Leonardo

    Nephrologie & therapeutique

    2017  Volume 13 Suppl 1, Page(s) S23–S28

    Abstract: Mitochondrial cytopathies include a heterogeneous group of diseases that are characterized by impaired oxidative phosphorylation. Current evidence suggests that renal involvement is probably more frequent than originally suspected but remains subclinical ...

    Abstract Mitochondrial cytopathies include a heterogeneous group of diseases that are characterized by impaired oxidative phosphorylation. Current evidence suggests that renal involvement is probably more frequent than originally suspected but remains subclinical in a significant number of patients or is underestimated due to the severity of other clinical manifestations. Until recently, these diseases were thought to develop primarily in pediatric patients but patients that become symptomatic only in adulthood are now well recognized. From a renal standpoint, many patients with severe systemic disease and several patients with oligo-symptomatic clinical pictures have tubular defects, ranging from isolated tubular wasting of electrolytes to complete forms of renal Fanconi syndrome. Aside from rare cases of tubulo-interstitial and cystic diseases, other patients present with glomerular diseases that correspond in the majority of cases to focal segmental glomerulosclerosis lesions. Two specific entities should be singled out, namely the 3243 A>G mutation in the gene encoding for the mitochondrial leucine tRNA because it represents the most frequent form of mitochondrial glomerulopathy, and defects in the biosynthesis of coenzyme Q10 because they represent one of the few treatable forms of mitochondrial cytopathies.
    Language English
    Publishing date 2017-04
    Publishing country France
    Document type Journal Article ; Review
    ZDB-ID 2229575-6
    ISSN 1872-9177 ; 1769-7255
    ISSN (online) 1872-9177
    ISSN 1769-7255
    DOI 10.1016/j.nephro.2017.01.014
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  9. Article: Unusual Evolution of Hypertrophic Cardiomyopathy in Non-Compaction Myocardium in a Pompe Disease Patient.

    Gragnaniello, Vincenza / Rizzardi, Caterina / Commone, Anna / Gueraldi, Daniela / Maines, Evelina / Salviati, Leonardo / Di Salvo, Giovanni / Burlina, Alberto B

    Journal of clinical medicine

    2023  Volume 12, Issue 6

    Abstract: Classic infantile Pompe disease is characterized by a severe phenotype with cardiomyopathy and hypotonia. Cardiomyopathy is generally hypertrophic and rapidly regresses after enzyme replacement therapy. In this report, for the first time, we describe a ... ...

    Abstract Classic infantile Pompe disease is characterized by a severe phenotype with cardiomyopathy and hypotonia. Cardiomyopathy is generally hypertrophic and rapidly regresses after enzyme replacement therapy. In this report, for the first time, we describe a patient with infantile Pompe disease and hypertrophic cardiomyopathy that evolved into non-compaction myocardium after treatment. The male newborn had suffered since birth with hypertrophic cardiomyopathy and heart failure. He was treated with standard enzyme replacement therapy (ERT) (alglucosidase alfa) and several immunomodulation cycles due to the development of anti-ERT antibodies, without resolution of the hypertrophic cardiomyopathy. At the age of 2.5 years, he was treated with a new combination of ERT therapy (cipaglucosidase alfa) and a chaperone (miglustat) for compassionate use. After 1 year, the cardiac hypertrophy was resolved, but it evolved into non-compaction myocardium. Non-compaction cardiomyopathy is often considered to be a congenital, primitive cardiomyopathy, due to an arrest of compaction of the myocardium wall during the embryonal development. Several genetic causes have been identified. We first describe cardiac remodeling from hypertrophic cardiomyopathy to a non-compaction form in a patient with infantile Pompe disease treated with a new ERT. This has important implications both for the monitoring of Pompe disease patients and for the understanding of the pathophysiological basis of non-compaction myocardium.
    Language English
    Publishing date 2023-03-19
    Publishing country Switzerland
    Document type Case Reports
    ZDB-ID 2662592-1
    ISSN 2077-0383
    ISSN 2077-0383
    DOI 10.3390/jcm12062365
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  10. Article ; Online: A case of childhood-onset dystonia-parkinsonism due to homozygous parkin mutations and effect of globus pallidus deep brain stimulation.

    Garrì, Federica / Ciprietti, Dario / Lerjefors, Lisa / Landi, Andrea / Pilleri, Manuela / Biundo, Roberta / Salviati, Leonardo / Carecchio, Miryam / Antonini, Angelo

    Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

    2023  Volume 44, Issue 9, Page(s) 3323–3326

    MeSH term(s) Humans ; Globus Pallidus/diagnostic imaging ; Dystonia/genetics ; Dystonia/therapy ; Deep Brain Stimulation ; Dystonic Disorders/genetics ; Dystonic Disorders/therapy ; Parkinsonian Disorders ; Mutation/genetics ; Ubiquitin-Protein Ligases/genetics ; Treatment Outcome
    Chemical Substances Ubiquitin-Protein Ligases (EC 2.3.2.27)
    Language English
    Publishing date 2023-05-10
    Publishing country Italy
    Document type Case Reports ; Letter
    ZDB-ID 2016546-8
    ISSN 1590-3478 ; 1590-1874
    ISSN (online) 1590-3478
    ISSN 1590-1874
    DOI 10.1007/s10072-023-06832-7
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