Maltecca F - Search Results

1

Sustained OMA1-mediated integrated stress response is beneficial for spastic ataxia type 5.

Franchino CA, Brughera M, Baderna V, De Ritis D, Rocco A, Seneca S, Regal L, Podini P, D'Antonio M, Toro C, Quattrini A, Scalais E, Maltecca F. Franchino CA, et al. Among authors: maltecca f. Brain. 2024 Mar 1;147(3):1043-1056. doi: 10.1093/brain/awad340. Brain. 2024. PMID: 37804316 Free PMC article.

2

Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation.

Tulli S, Del Bondio A, Baderna V, Mazza D, Codazzi F, Pierson TM, Ambrosi A, Nolte D, Goizet C, Toro C, Baets J, Deconinck T, DeJonghe P, Mandich P, Casari G, Maltecca F. Tulli S, et al. Among authors: maltecca f. J Med Genet. 2019 Aug;56(8):499-511. doi: 10.1136/jmedgenet-2018-105766. Epub 2019 Mar 25. J Med Genet. 2019. PMID: 30910913 Free PMC article.

3

A novel AFG3L2 mutation close to AAA domain leads to aberrant OMA1 and OPA1 processing in a family with optic atrophy.

Baderna V, Schultz J, Kearns LS, Fahey M, Thompson BA, Ruddle JB, Huq A, Maltecca F. Baderna V, et al. Among authors: maltecca f. Acta Neuropathol Commun. 2020 Jun 29;8(1):93. doi: 10.1186/s40478-020-00975-w. Acta Neuropathol Commun. 2020. PMID: 32600459 Free PMC article.

4

Restoring calcium homeostasis in Purkinje cells arrests neurodegeneration and neuroinflammation in the ARSACS mouse model.

Del Bondio A, Longo F, De Ritis D, Spirito E, Podini P, Brais B, Bachi A, Quattrini A, Maltecca F. Del Bondio A, et al. Among authors: maltecca f. JCI Insight. 2023 Jun 22;8(12):e163576. doi: 10.1172/jci.insight.163576. JCI Insight. 2023. PMID: 37159335 Free PMC article.

5

Impaired turnover of hyperfused mitochondria in severe axonal neuropathy due to a novel DRP1 mutation.

Longo F, Benedetti S, Zambon AA, Sora MGN, Di Resta C, De Ritis D, Quattrini A, Maltecca F, Ferrari M, Previtali SC. Longo F, et al. Among authors: maltecca f. Hum Mol Genet. 2020 Jan 15;29(2):177-188. doi: 10.1093/hmg/ddz211. Hum Mol Genet. 2020. PMID: 31868880

6

Haploinsufficiency of AFG3L2, the gene responsible for spinocerebellar ataxia type 28, causes mitochondria-mediated Purkinje cell dark degeneration.

Maltecca F, Magnoni R, Cerri F, Cox GA, Quattrini A, Casari G. Maltecca F, et al. J Neurosci. 2009 Jul 22;29(29):9244-54. doi: 10.1523/JNEUROSCI.1532-09.2009. J Neurosci. 2009. PMID: 19625515 Free PMC article.

7

Assessment of Sacsin Turnover in Patients With ARSACS: Implications for Molecular Diagnosis and Pathogenesis.

Longo F, De Ritis D, Miluzio A, Fraticelli D, Baets J, Scarlato M, Santorelli FM, Biffo S, Maltecca F. Longo F, et al. Among authors: maltecca f. Neurology. 2021 Dec 7;97(23):e2315-e2327. doi: 10.1212/WNL.0000000000012962. Epub 2021 Oct 14. Neurology. 2021. PMID: 34649874 Free PMC article.

8

SETD5 haploinsufficiency affects mitochondrial compartment in neural cells.

Zaghi M, Longo F, Massimino L, Rubio A, Bido S, Mazzara PG, Bellini E, Banfi F, Podini P, Maltecca F, Zippo A, Broccoli V, Sessa A. Zaghi M, et al. Among authors: maltecca f. Mol Autism. 2023 Jun 1;14(1):20. doi: 10.1186/s13229-023-00550-9. Mol Autism. 2023. PMID: 37264456 Free PMC article.

9

The mitochondrial protease AFG3L2 is essential for axonal development.

Maltecca F, Aghaie A, Schroeder DG, Cassina L, Taylor BA, Phillips SJ, Malaguti M, Previtali S, Guénet JL, Quattrini A, Cox GA, Casari G. Maltecca F, et al. J Neurosci. 2008 Mar 12;28(11):2827-36. doi: 10.1523/JNEUROSCI.4677-07.2008. J Neurosci. 2008. PMID: 18337413 Free PMC article.

10

Purkinje neuron Ca2+ influx reduction rescues ataxia in SCA28 model.

Maltecca F, Baseggio E, Consolato F, Mazza D, Podini P, Young SM Jr, Drago I, Bahr BA, Puliti A, Codazzi F, Quattrini A, Casari G. Maltecca F, et al. J Clin Invest. 2015 Jan;125(1):263-74. doi: 10.1172/JCI74770. Epub 2014 Dec 8. J Clin Invest. 2015. PMID: 25485680 Free PMC article.

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