Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q

Authors: Chiara Diquigiovanni, Nicola Rizzardi, Antje Kampmeier, Irene Liparulo, Francesca Bianco, Bianca De Nicolo, Erica Cataldi-Stagetti, Elisabetta Cuna, Giulia Severi, Marco Seri, Miriam Bertrand, Tobias B. Haack, Adela Della Marina, Frederik Braun, Romana Fato, Alma Kuechler, Christian Bergamini, Elena Bonora

Source: Open Biology, Vol 13, Iss 7 (2023)

Subject Terms: SPG20, Spartin, bioenergetics, mitochondrial protein import, Coenzyme Q, Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://doaj.org/toc/2046-2441

Access URL: https://doaj.org/article/3a2f4d216a754efba99fc06b6d4bfab0

Calcium and Reactive Oxygen Species Signaling Interplays in Cardiac Physiology and Pathologies

Authors: Bianca De Nicolo, Erica Cataldi-Stagetti, Chiara Diquigiovanni, Elena Bonora

Source: Antioxidants, Vol 12, Iss 2, p 353 (2023)

Subject Terms: calcium, ROS, mitochondria, mitochondrial dysfunction, drugs, cardiomyopathies, Therapeutics. Pharmacology, RM1-950

File Description: electronic resource

Relation: https://www.mdpi.com/2076-3921/12/2/353; https://doaj.org/toc/2076-3921

Access URL: https://doaj.org/article/81764406cc8f4bb39e110d2f2a4c4d10

Novel understanding on genetic mechanisms of enteric neuropathies leading to severe gut dysmotility

Authors: Francesca Bianco, Giulia Lattanzio, Luca Lorenzini, Chiara Diquigiovanni, Maurizio Mazzoni, Paolo Clavenzani, Laura Calzà, Luciana Giardino, Catia Sternini, Elena Bonora, Roberto De Giorgio

Source: European Journal of Histochemistry, Vol 65, Iss s1 (2021)

Subject Terms: Chronic intestinal pseudo-obstruction, Enteric neuropathies, Genes, Hirschsprung’s disease, Neuroprotection, 5-HT4 receptors., Biology (General), QH301-705.5

File Description: electronic resource

Relation: https://ejh.it/index.php/ejh/article/view/3289; https://doaj.org/toc/1121-760X; https://doaj.org/toc/2038-8306

Access URL: https://doaj.org/article/38cb5a1f156c41da91e4e1b8dee00e58

Whole Genome Sequencing Prioritizes CHEK2, EWSR1, and TIAM1 as Possible Predisposition Genes for Familial Non-Medullary Thyroid Cancer

Authors: Aayushi Srivastava, Sara Giangiobbe, Diamanto Skopelitou, Beiping Miao, Nagarajan Paramasivam, Chiara Diquigiovanni, Elena Bonora, Kari Hemminki, Asta Försti, Obul Reddy Bandapalli

Source: Frontiers in Endocrinology, Vol 12 (2021)

Subject Terms: CHEK2, EWSR1, TIAM1, familial non-medullary thyroid cancer, germline variant, non-syndromic, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fendo.2021.600682/full; https://doaj.org/toc/1664-2392

Access URL: https://doaj.org/article/23c65b19eb464b2c85226e7343289103

Familial Cancer Variant Prioritization Pipeline version 2 (FCVPPv2) applied to a papillary thyroid cancer family

Authors: Abhishek Kumar, Obul Reddy Bandapalli, Nagarajan Paramasivam, Sara Giangiobbe, Chiara Diquigiovanni, Elena Bonora, Roland Eils, Matthias Schlesner, Kari Hemminki, Asta Försti

Source: Scientific Reports, Vol 8, Iss 1, Pp 1-12 (2018)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/c32193a2b57f403ea2c06d828e63cf5c

Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients

Authors: Elena Bonora, Claudio Graziano, Fiorella Minopoli, Elena Bacchelli, Pamela Magini, Chiara Diquigiovanni, Silvia Lomartire, Francesca Bianco, Manuela Vargiolu, Piero Parchi, Elena Marasco, Vilma Mantovani, Luca Rampoldi, Matteo Trudu, Antonia Parmeggiani, Agatino Battaglia, Luigi Mazzone, Giada Tortora, IMGSAC, Elena Maestrini, Marco Seri, Giovanni Romeo

Source: EMBO Molecular Medicine, Vol 6, Iss 6, Pp 795-809 (2014)

Subject Terms: autism spectrum disorders, CADPS2, intellectual disability, monoallelic expression, mutation screening, Medicine (General), R5-920, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1757-4676; https://doaj.org/toc/1757-4684

Access URL: https://doaj.org/article/719c40e8807c493794f7627dceec2567

Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients

Authors: Elena Bonora, Claudio Graziano, Fiorella Minopoli, Elena Bacchelli, Pamela Magini, Chiara Diquigiovanni, Silvia Lomartire, Francesca Bianco, Manuela Vargiolu, Piero Parchi, Elena Marasco, Vilma Mantovani, Luca Rampoldi, Matteo Trudu, Antonia Parmeggiani, Agatino Battaglia, Luigi Mazzone, Giada Tortora, IMGSAC, Elena Maestrini, Marco Seri, Giovanni Romeo

Source: EMBO Molecular Medicine, Vol 6, Iss 12, Pp 1639-1639 (2014)

Subject Terms: Medicine (General), R5-920, Genetics, QH426-470

File Description: electronic resource

Relation: https://doaj.org/toc/1757-4676; https://doaj.org/toc/1757-4684

Access URL: https://doaj.org/article/f03afee3abd3410897dd44ef77db1429