Novel loss of function mutation in TUBA1A gene compromises tubulin stability and proteostasis causing spastic paraplegia and ataxia

Authors: Riccardo Zocchi, Emanuele Bellacchio, Michela Piccione, Raffaella Scardigli, Valentina D’Oria, Stefania Petrini, Kristin Baranano, Enrico Bertini, Antonella Sferra

Source: Frontiers in Cellular Neuroscience, Vol 17 (2023)

Subject Terms: tubulin, microtubule, tubulinopathies, TUBA1A, mutation, gene, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fncel.2023.1162363/full; https://doaj.org/toc/1662-5102

Access URL: https://doaj.org/article/591cc8724f4841c9a94d6fbb5ca85191

P360: Phenotypic and molecular characterization of a cohort of patients with primary CoQ10 deficiency caused by pathogenic variants in COQ7

Authors: Parith Wongkittichote, Laura Duque Lasio, Martina Magistrati, Sheel Pathak, Brooke Sample, Daniel Carvalho, Adrianna Banzzatto Ortega, Claudio de Gusmao, Matheus Castro, Tomi Toler, Emanuele Bellacchio, Cristina Dallabona, Marwan Shinawi

Source: Genetics in Medicine Open, Vol 1, Iss 1, Pp 100388- (2023)

Subject Terms: Genetics, QH426-470, Medicine

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2949774423003886; https://doaj.org/toc/2949-7744

Access URL: https://doaj.org/article/83ed346d99624bc78f0efca86c900de8

Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency

Authors: Gerarda Mastrogiorgio, Marina Macchiaiolo, Paola Sabrina Buonuomo, Emanuele Bellacchio, Matteo Bordi, Davide Vecchio, Kari Payne Brown, Natalie Karen Watson, Benedetta Contardi, Francesco Cecconi, Marco Tartaglia, Andrea Bartuli

Source: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)

Subject Terms: Adenylosuccinate lyase deficiency, Exome sequencing, Intellectual disability, Epilepsy, Neurometabolic disease, Purine nucleotide cycle defect, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/6f3e197046184bc182934ab966600958

The KLB rs17618244 gene variant is associated with fibrosing MAFLD by promoting hepatic stellate cell activation

Authors: Nadia Panera, Marica Meroni, Miriam Longo, Annalisa Crudele, Luca Valenti, Emanuele Bellacchio, Luca Miele, Valentina D'Oria, Erika Paolini, Marco Maggioni, Anna Ludovica Fracanzani, Anna Alisi, Paola Dongiovanni

Source: EBioMedicine, Vol 65, Iss , Pp 103249- (2021)

Subject Terms: MAFLD, Liver damage, HSCS activation, protein stability, Medicine, Medicine (General), R5-920

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2352396421000426; https://doaj.org/toc/2352-3964

Access URL: https://doaj.org/article/d1a935edba384368b2b355957196a217

Very mild isolated intellectual disability caused by adenylosuccinate lyase deficiency: a new phenotype

Authors: Marina Macchiaiolo, Paola Sabrina Buonuomo, Gerarda Mastrogiorgio, Matteo Bordi, Beatrice Testa, Gerrit Weber, Emanuele Bellacchio, Marco Tartaglia, Francesco Cecconi, Andrea Bartuli

Source: Molecular Genetics and Metabolism Reports, Vol 23, Iss , Pp - (2020)

Subject Terms: Adenylosuccinate lyase deficiency, Purine metabolism, Exome sequencing, Autophagy, Medicine (General), R5-920, Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426920300380; https://doaj.org/toc/2214-4269

Access URL: https://doaj.org/article/3d794aceebe3437b9b34c5dab1234c95

Expanding the clinical phenotype of IARS2-related mitochondrial disease

Authors: Barbara Vona, Reza Maroofian, Emanuele Bellacchio, Maryam Najafi, Kyle Thompson, Ahmad Alahmad, Langping He, Najmeh Ahangari, Abolfazl Rad, Sima Shahrokhzadeh, Paulina Bahena, Falk Mittag, Frank Traub, Jebrail Movaffagh, Nafise Amiri, Mohammad Doosti, Reza Boostani, Ebrahim Shirzadeh, Thomas Haaf, Daria Diodato, Miriam Schmidts, Robert W. Taylor, Ehsan Ghayoor Karimiani

Source: BMC Medical Genetics, Vol 19, Iss 1, Pp 1-16 (2018)

Subject Terms: Adrenal insufficiency, CAGSSS, Cataracts, Growth hormone deficiency, IARS2, Sensory neuropathy, Internal medicine, RC31-1245, Genetics, QH426-470

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s12881-018-0709-3; https://doaj.org/toc/1471-2350

Access URL: https://doaj.org/article/7a44dab6ea36468587af0d9f3785f355

Mineralization of alpha-1-antitrypsin inclusion bodies in Mmalton alpha-1-antitrypsin deficiency

Authors: Francesco Callea, Isabella Giovannoni, Paola Francalanci, Renata Boldrini, Gavino Faa, Daniela Medicina, Valerio Nobili, Valeer J. Desmet, Kamal Ishak, Kuniaki Seyama, Emanuele Bellacchio

Source: Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-9 (2018)

Subject Terms: Alpha-1-antitrypsin deficiency, Mmalton, calcification, Medicine

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-018-0821-7; https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/6edc85286bc744ac968de75982c1f32e

A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing

Authors: Marina Macchiaiolo, Sabina Barresi, Francesco Cecconi, Ginevra Zanni, Marcello Niceta, Emanuele Bellacchio, Giacomo Lazzarino, Angela Maria Amorini, Enrico Silvio Bertini, Salvatore Rizza, Benedetta Contardi, Marco Tartaglia, Andrea Bartuli

Source: Italian Journal of Pediatrics, Vol 43, Iss 1, Pp 1-7 (2017)

Subject Terms: Adenylosuccinate lyase deficiency, Whole exome sequencing, Diagnosis, Epilepsy, Pediatrics, RJ1-570

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s13052-017-0383-7; https://doaj.org/toc/1824-7288

Access URL: https://doaj.org/article/c86dcd26f51b418ca04fc55185fd91a1

A Novel Homozygous Mutation of the AIRE Gene in an APECED Patient From Pakistan: Case Report and Review of the Literature

Authors: Marsha Pellegrino, Emanuele Bellacchio, Rudina Dhamo, Federica Frasca, Corrado Betterle, Alessandra Fierabracci

Source: Frontiers in Immunology, Vol 9 (2018)

Subject Terms: APECED, AIRE gene, genotype/phenotype correlation, mutation functional analysis, epidemiology, Immunologic diseases. Allergy, RC581-607

File Description: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fimmu.2018.01835/full; https://doaj.org/toc/1664-3224

Access URL: https://doaj.org/article/d687d69d7a854ec1bcd751a4cad71a2f

Genetics and Molecular Modeling of New Mutations of Familial Intrahepatic Cholestasis in a Single Italian Center.

Authors: Isabella Giovannoni, Francesco Callea, Emanuele Bellacchio, Giuliano Torre, Jean De Ville De Goyet, Paola Francalanci

Source: PLoS ONE, Vol 10, Iss 12, p e0145021 (2015)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0145021&type=printable; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/31b0ca95c04246b4b8342ea0b69dc6d7

Targeting proliferating cell nuclear antigen and its protein interactions induces apoptosis in multiple myeloma cells.

Authors: Rebekka Müller, Kristine Misund, Toril Holien, Siri Bachke, Karin M Gilljam, Thea K Våtsveen, Torstein B Rø, Emanuele Bellacchio, Anders Sundan, Marit Otterlei

Source: PLoS ONE, Vol 8, Iss 7, p e70430 (2013)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23936203/?tool=EBI; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/40105f6515f04da4aa52f22d17571104

ATM gene alterations in chronic lymphocytic leukemia patients induce a distinct gene expression profile and predict disease progression

Authors: Anna Guarini, Marilisa Marinelli, Simona Tavolaro, Emanuele Bellacchio, Monia Magliozzi, Sabina Chiaretti, Maria Stefania De Propris, Nadia Peragine, Simona Santangelo, Francesca Paoloni, Mauro Nanni, Ilaria Del Giudice, Francesca Romana Mauro, Isabella Torrente, Robin Foà

Source: Haematologica, Vol 97, Iss 1 (2012)

Subject Terms: Diseases of the blood and blood-forming organs, RC633-647.5

File Description: electronic resource

Relation: https://haematologica.org/article/view/6188; https://doaj.org/toc/0390-6078; https://doaj.org/toc/1592-8721

Access URL: https://doaj.org/article/1ff52fd1ad79422eb52ab4568d962391

Human papillomavirus-16 E7 interacts with glutathione S-transferase P1 and enhances its role in cell survival.

Authors: Anna M Mileo, Claudia Abbruzzese, Stefano Mattarocci, Emanuele Bellacchio, Paola Pisano, Antonio Federico, Vittoria Maresca, Mauro Picardo, Alessandra Giorgi, Bruno Maras, M Eugenia Schininà, Marco G Paggi

Source: PLoS ONE, Vol 4, Iss 10, p e7254 (2009)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: http://europepmc.org/articles/PMC2758704?pdf=render; https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/338bbb0e9a5443fab3e699dbec620145

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AHI1 gene mutations cause specific forms of Joubert syndrome–related disorders.

Authors: Enza Maria Valente, Francesco Brancati, Jennifer L. Silhavy, Marco Castori, Sarah E. Marsh, Giuseppe Barrano, Enrico Bertini, Eugen Boltshauser, Maha S. Zaki, Alice Abdel‐Aleem, Ghada M. H. Abdel‐Salam, Emanuele Bellacchio, Roberta Battini, Robert P. Cruse, William B. Dobyns, Kalpathy S. Krishnamoorthy, Clotilde Lagier‐Tourenne, Alex Magee, Ignacio Pascual‐Castroviejo, Carmelo D. Salpietro

Source: Annals of Neurology; Mar2006, Vol. 59 Issue 3, p527-534, 8p

Redox regulation of cyclophilin A by glutathionylation.

Authors: Pietro Ghezzi, Simona Casagrande, Tania Massignan, Manuela Basso, Emanuele Bellacchio, Luca Mollica, Emiliano Biasini, Rossella Tonelli, Ivano Eberini, Elisabetta Gianazza, Wei Wei Dai, Maddalena Fratelli, Mario Salmona, Barbara Sherry, Valentina Bonetto

Source: Proteomics; Feb2006, Vol. 6 Issue 3, p817-825, 9p