Search Results - "Maria Valente, Enza"

Motile and non‐motile cilia in human pathology: from function to phenotypes by Mitchison, Hannah M, Valente, Enza Maria

“…Ciliopathies are inherited human disorders caused by both motile and non‐motile cilia dysfunction that form an important and rapidly expanding disease…”
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PINK1 in the limelight: multiple functions of an eclectic protein in human health and disease by Arena, Giuseppe, Valente, Enza Maria

“…The gene PINK1 [phosphatase and tensin homologue (PTEN)‐induced putative kinase 1] encodes a serine/threonine kinase which was initially linked to the…”
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Joubert syndrome: congenital cerebellar ataxia with the molar tooth by Romani, Marta, PhD, Micalizzi, Alessia, BSc, Valente, Enza Maria, Prof

“…Summary Joubert syndrome is a congenital cerebellar ataxia with autosomal recessive or X-linked inheritance, the diagnostic hallmark of which is a unique…”
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Genotype–phenotype correlates in Joubert syndrome: A review by Gana, Simone, Serpieri, Valentina, Valente, Enza Maria

“…Joubert syndrome (JS) is a genetically heterogeneous primary ciliopathy characterized by a pathognomonic cerebellar and brainstem malformation, the “molar…”
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Mitochondria and Parkinson's disease: a complex (III) liaison by Cerri, Silvia, Valente, Enza Maria

“…This scientific commentary refers to ‘Mitochondrial UQCRC1 mutations cause autosomal dominant parkinsonism with polyneuropathy’, by Lin et al…”
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Phenotypic spectrum of alpha-synuclein mutations: New insights from patients and cellular models by Petrucci, Simona, Ginevrino, Monia, Valente, Enza Maria

“…Abstract The identification of the p.A53T mutation in the SNCA gene encoding alpha-synuclein (alpha-syn), as causative of autosomal dominant Parkinson disease…”
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PINK1 and BECN1 relocalize at mitochondria-associated membranes during mitophagy and promote ER-mitochondria tethering and autophagosome formation by Gelmetti, Vania, De Rosa, Priscilla, Torosantucci, Liliana, Marini, Elettra Sara, Romagnoli, Alessandra, Di Rienzo, Martina, Arena, Giuseppe, Vignone, Domenico, Fimia, Gian Maria, Valente, Enza Maria

“…Mitophagy is a highly specialized process to remove dysfunctional or superfluous mitochondria through the macroautophagy/autophagy pathway, aimed at protecting…”
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Primary cilia in neurodevelopmental disorders by Valente, Enza Maria, Rosti, Rasim O., Gibbs, Elizabeth, Gleeson, Joseph G.

“…Key Points Primary cilia are single hair-like, non-motile sensory organelles that are found on the surface of almost all cells in vertebrates Physiological…”
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Mitochondrial damage-associated inflammation highlights biomarkers in PRKN/PINK1 parkinsonism by Borsche, Max, König, Inke R, Delcambre, Sylvie, Petrucci, Simona, Balck, Alexander, Brüggemann, Norbert, Zimprich, Alexander, Wasner, Kobi, Pereira, Sandro L, Avenali, Micol, Deuschle, Christian, Badanjak, Katja, Ghelfi, Jenny, Gasser, Thomas, Kasten, Meike, Rosenstiel, Philip, Lohmann, Katja, Brockmann, Kathrin, Valente, Enza Maria, Youle, Richard J, Grünewald, Anne, Klein, Christine

“…There is increasing evidence for a role of inflammation in Parkinson's disease. Recent research in murine models suggests that parkin and PINK1 deficiency…”
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PINK1 and Parkin: The odd couple by Yoboue, Edgar Djaha, Valente, Enza Maria

“…•PINK1, Parkin and ubiquitin act closely together in regulation of mitophagy.•PINK1 has emerged as a new actor at the mitochondria-ER contact sites.•PINK1 and…”
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Joubert Syndrome and related disorders by Brancati, Francesco, Dallapiccola, Bruno, Valente, Enza Maria

“…Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomalies syndromes in which the obligatory hallmark…”
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RFC1 expansions are a common cause of idiopathic sensory neuropathy by Currò, Riccardo, Salvalaggio, Alessandro, Tozza, Stefano, Gemelli, Chiara, Dominik, Natalia, Galassi Deforie, Valentina, Magrinelli, Francesca, Castellani, Francesca, Vegezzi, Elisa, Businaro, Pietro, Callegari, Ilaria, Pichiecchio, Anna, Cosentino, Giuseppe, Alfonsi, Enrico, Marchioni, Enrico, Colnaghi, Silvia, Gana, Simone, Valente, Enza Maria, Tassorelli, Cristina, Efthymiou, Stephanie, Facchini, Stefano, Carr, Aisling, Laura, Matilde, Rossor, Alexander M, Manji, Hadi, Lunn, Michael P, Pegoraro, Elena, Santoro, Lucio, Grandis, Marina, Bellone, Emilia, Beauchamp, Nicholas J, Hadjivassiliou, Marios, Kaski, Diego, Bronstein, Adolfo M, Houlden, Henry, Reilly, Mary M, Mandich, Paola, Schenone, Angelo, Manganelli, Fiore, Briani, Chiara, Cortese, Andrea

“…After extensive evaluation, one-third of patients affected by polyneuropathy remain undiagnosed and are labelled as having chronic idiopathic axonal…”
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A novel variant in NEUROD2 in a patient with Rett-like phenotype points to Glu130 codon as a mutational hotspot by POLITANO, Davide, GANA, Simone, PEZZOTTI, Elena, BERARDINELLI, Angela, PASCA, Ludovica, Carmen BARBERO, Veronica, PICHIECCHIO, Anna, Maria VALENTE, Enza, ERRICHIELLO, Edoardo

“…NEUROD2, encoding the neurogenic differentiation factor 2, is essential for neurodevelopment. To date, heterozygous missense variants in this gene have been…”
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Blood D-serine levels correlate with aging and dopaminergic treatment in Parkinson's disease by Imarisio, Alberto, Yahyavi, Isar, Avenali, Micol, Di Maio, Anna, Buongarzone, Gabriele, Galandra, Caterina, Picascia, Marta, Filosa, Asia, Gasparri, Clara, Monti, Maria Cristina, Rondanelli, Mariangela, Pacchetti, Claudio, Errico, Francesco, Valente, Enza Maria, Usiello, Alessandro

“…We recently described increased D- and L-serine concentrations in the striatum of 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP)-treated monkeys, the…”
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An SCN9A channelopathy causes congenital inability to experience pain by Reimann, Frank, McHale, Duncan P, Valente, Enza Maria, Jafri, Hussain, Al-Gazali, Lihadh, Gribble, Fiona M, Thornton, Gemma, Gorman, Shaun, Williams, Richard, Wood, John N, Nicholas, Adeline K, Roberts, Emma, Mannan, Jovaria, Springell, Kelly, Woods, C. Geoffrey, Cox, James J, Raashid, Yasmin, Karbani, Gulshan, Hamamy, Henan

“…The complete inability to sense pain in an otherwise healthy individual is a very rare phenotype. In three consanguineous families from northern Pakistan, we…”
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Clinical features for diagnosis and management of patients with PRDM12 congenital insensitivity to pain by Zhang, Stella, Malik Sharif, Saghira, Chen, Ya-Chun, Valente, Enza-Maria, Ahmed, Mushtaq, Sheridan, Eamonn, Bennett, Christopher, Woods, Geoffrey

“…Congenital insensitivity to pain (CIP) is a rare extreme phenotype characterised by an inability to perceive pain present from birth due to lack of, or…”
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MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone by Li, Chunmei, Jensen, Victor L, Park, Kwangjin, Kennedy, Julie, Garcia-Gonzalo, Francesc R, Romani, Marta, De Mori, Roberta, Bruel, Ange-Line, Gaillard, Dominique, Doray, Bérénice, Lopez, Estelle, Rivière, Jean-Baptiste, Faivre, Laurence, Thauvin-Robinet, Christel, Reiter, Jeremy F, Blacque, Oliver E, Valente, Enza Maria, Leroux, Michel R

“…Cilia have a unique diffusion barrier ("gate") within their proximal region, termed transition zone (TZ), that compartmentalises signalling proteins within the…”
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GBA Mutations Influence the Release and Pathological Effects of Small Extracellular Vesicles from Fibroblasts of Patients with Parkinson's Disease by Cerri, Silvia, Ghezzi, Cristina, Ongari, Gerardo, Croce, Stefania, Avenali, Micol, Zangaglia, Roberta, Di Monte, Donato A, Valente, Enza Maria, Blandini, Fabio

“…Heterozygous mutations in the GBA gene, encoding the lysosomal enzyme glucocerebrosidase (GCase), are the strongest known genetic risk factor for Parkinson's…”
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Mutations in INPP5E , encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies by Al-Gazali, Lihadh, Silhavy, Jennifer L, Kayserili, Hulya, Fazzi, Elisa, Bertini, Enrico, Bayoumi, Riad A, Abdel-Aleem, Alice, Travaglini, Lorena, Valente, Enza Maria, Gleeson, Joseph G, Field, Seth J, Sztriha, Laszlo, Boltshauser, Eugen, Majerus, Philip W, Brancati, Francesco, Schurmans, Stephane, Scott, Lesley C, Gayral, Stephanie, Jacoby, Monique, Dallapiccola, Bruno, Bielas, Stephanie L, Kisseleva, Marina V, Rosti, Rasim Ozgur, Swistun, Dominika, Zaki, Maha S

“…Phosphotidylinositol (PtdIns) signaling is tightly regulated both spatially and temporally by subcellularly localized PtdIns kinases and phosphatases that…”
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PRRT2 gene mutations: From paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine by GARDINER, Alice R, BHATIA, Kailash P, VALENTE, Enza-Maria, SILVEIRA-MORIYAMA, Laura, TEIVE, Hélio A. G, RASKIN, Salmo, SANDER, Josemir W, LEES, Andrew, WARNER, Tom, KULLMANN, Dimitri M, WOOD, Nicholas W, HANNA, Michael, STAMELOU, Maria, HOULDEN, Henry, DALE, Russell C, KURIAN, Manju A, SCHNEIDER, Susanne A, WALI, G. M, COUNIHAN, Tim, SCHAPIRA, Anthony H, SPACEY, Sian D

“…The proline-rich transmembrane protein (PRRT2) gene was recently identified using exome sequencing as the cause of autosomal dominant paroxysmal kinesigenic…”
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