Vania Broccoli

CDKL5 influences RNA splicing activity by its association to the nuclear speckle molecular machinery (2009)

Ricciardi, Sara, Kilstrup-Nielsen, Charlotte, Bienvenu, Thierry, Jacquette, Aurélia, Landsberger, Nicoletta, Broccoli, Vania

Mutations in the human X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have been shown to cause severe neurodevelopmental disorders including infantile spasms, encephalopathy, West-syndrome and...

Neurobiology of Disease Inactivation of Arx, the Murine Ortholog of the X-Linked Lissencephaly with Ambiguous Genitalia Gene, Leads to Severe Disorganization of the Ventral Telencephalon with Impaired Neuronal Migration and Differentiation (2008)

Elena Colombo, Patrick Collombat, Gaia Colasante, Marta Bianchi, Jason Long, Ahmed Mansouri, ...

ARX loss-of-function mutations cause X-linked lissencephaly with ambiguous genitalia (XLAG), a severe neurological condition that results in profound brain malformations, including microcephaly,...

Aristaless-related homeobox gene, the gene responsible for west syndrome and related disorders, is a groucho/transducin-like enhancer of split dependent transcriptional repressor (2007)

McKenzie, Olivia L. D., Ponte, I., Mangelsdorf, Marie Elise, Finnis, Merran, Colasante, G., Shoubridge, C. A., ...

Copyright © 2007 IBRO Published by Elsevier Ltd.

Aristaless-related homeobox gene, the gene responsible for west syndrome and related disorders, is a groucho/transducin-like enhancer of split dependent transcriptional repressor (2007)

McKenzie, Olivia L. D., Ponte, I., Mangelsdorf, Marie Elise, Finnis, Merran, Colasante, G., Shoubridge, C. A., ...

Copyright © 2007 IBRO Published by Elsevier Ltd.

Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage (2005)

Ferrer, Isidre, Kapfhammer, Josef P., Hindelang, Colette, Kemp, Stephan, Troffer-Charlier, Nathalie, Broccoli, Vania, ...

ATP-binding cassette (ABC) transporters facilitate unidirectional translocation of chemically diverse substances, ranging from peptides to lipids, across cell or organelle membranes. In peroxisomes,...

CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome (2005)

Mari, Francesca, Azimonti, Sara, Bertani, Ilaria, Bolognese, Fabrizio, Colombo, Elena, Caselli, Rossella, ...

Rett syndrome (RTT) is a severe neurodevelopmental disorder almost exclusively affecting females and characterized by a wide spectrum of clinical manifestations. Most patients affected by classic RTT...

CDKL5 Belongs to the Same Molecular Pathway of MeCP2 and it is Responsible for the Early Seizure Variant of Rett Syndrome (2005)

Mari, Francesca, Azimonti, Sara, Bertani, Ilaria, Bolognese, Fabrizio, Colombo, Elena, Caselli, Rossella, ...

Rett syndrome (RTT) is a severe neurodevelopmental disorder almost exclusively affecting females and characterized by a wide spectrum of clinical manifestations. Most patients affected by classic RTT...

Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmatic reticulum damage (2005)

Ferrer, Isidre, Kapfhammer, Josef, Hindelang, Colette, Kemp, Stephan, Troffer-Charlier, Nathalie, Broccoli, Vania, ...

ATP-binding cassette (ABC) transporters facilitate unidirectional translocation of chemically diverse substances, ranging from peptides to lipids, across cell or organelle membranes. In peroxisomes,...

Barhl1, a gene belonging to a new subfamily of mammalian homeobox genes, is expressed in migrating neurons of the CNS (2000)

Bulfone, Alessandro, Menguzzato, Emilio, Broccoli, Vania, Marchitiello, Anna, Gattuso, Claudio, Mariani, Margherita, ...

The BarH1 and BarH2 (Bar) Drosophila genes are homeobox-containing genes, which are required for the fate determination of external sensory organs in the fly. By means of a bioinformatic approach, we...

Mapping Wnt/β-catenin signaling during mouse development and in colorectal tumors

Maretto, Silvia, Cordenonsi, Michelangelo, Dupont, Sirio, Braghetta, Paola, Broccoli, Vania, Hassan, A. Bassim, ...

Wnt/β-catenin signaling plays key roles in several developmental and pathological processes. Domains of Wnt expression have been extensively investigated in the mouse, but the tissues receiving the...

Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport

Ferreirinha, Fatima, Quattrini, Angelo, Pirozzi, Marinella, Valsecchi, Valentina, Dina, Giorgia, Broccoli, Vania, ...

In several neurodegenerative diseases, axonal degeneration occurs before neuronal death and contributes significantly to patients’ disability. Hereditary spastic paraplegia (HSP) is a genetically...

Mapping Wnt/β-catenin signaling during mouse development and in colorectal tumors

Maretto, Silvia, Cordenonsi, Michelangelo, Dupont, Sirio, Braghetta, Paola, Broccoli, Vania, Hassan, A. Bassim, ...

Wnt/β-catenin signaling plays key roles in several developmental and pathological processes. Domains of Wnt expression have been extensively investigated in the mouse, but the tissues receiving the...

Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport

Ferreirinha, Fatima, Quattrini, Angelo, Pirozzi, Marinella, Valsecchi, Valentina, Dina, Giorgia, Broccoli, Vania, ...

In several neurodegenerative diseases, axonal degeneration occurs before neuronal death and contributes significantly to patients’ disability. Hereditary spastic paraplegia (HSP) is a genetically...

Necdin mediates skeletal muscle regeneration by promoting myoblast survival and differentiation

Deponti, Daniela, François, Stéphanie, Baesso, Silvia, Sciorati, Clara, Innocenzi, Anna, Broccoli, Vania, ...

Regeneration of muscle fibers that are lost during pathological muscle degeneration or after injuries is sustained by the production of new myofibers. An important cell type involved in muscle...

Magic-Factor 1, a Partial Agonist of Met, Induces Muscle Hypertrophy by Protecting Myogenic Progenitors from Apoptosis

Cassano, Marco, Biressi, Stefano, Finan, Amanda, Benedetti, Laura, Omes, Claudia, Boratto, Renata, ...

Neurons derived from reprogrammed fibroblasts functionally integrate into the fetal brain and improve symptoms of rats with Parkinson's disease

Wernig, Marius, Zhao, Jian-Ping, Pruszak, Jan, Hedlund, Eva, Fu, Dongdong, Soldner, Frank, ...

The long-term goal of nuclear transfer or alternative reprogramming approaches is to create patient-specific donor cells for transplantation therapy, avoiding immunorejection, a major complication in...

FOXG1 Is Responsible for the Congenital Variant of Rett Syndrome

Ariani, Francesca, Hayek, Giuseppe, Rondinella, Dalila, Artuso, Rosangela, Mencarelli, Maria Antonietta, Spanhol-Rosseto, Ariele, ...

Rett syndrome is a severe neurodevelopmental disease caused by mutations in the X-linked gene encoding for the methyl-CpG-binding protein MeCP2. Here, we report the identification of FOXG1-truncating...

CDKL5 Expression Is Modulated during Neuronal Development and Its Subcellular Distribution Is Tightly Regulated by the C-terminal Tail*

Rusconi, Laura, Salvatoni, Lisa, Giudici, Laura, Bertani, Ilaria, Kilstrup-Nielsen, Charlotte, Broccoli, Vania, ...

Mutations in the human X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have been identified in patients with Rett syndrome (RTT), West syndrome, and X-linked infantile spasms, sharing the common...