Format
Items per page
Sort by

Send to:

Choose Destination

Links from PubMed

Items: 1 to 20 of 123

1.

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.

J Neurosci. 2009 Jul 22;29(29):9244-54. doi: 10.1523/JNEUROSCI.1532-09.2009.

2.

Genetic interaction between the m-AAA protease isoenzymes reveals novel roles in cerebellar degeneration.

Martinelli P, La Mattina V, Bernacchia A, Magnoni R, Cerri F, Cox G, Quattrini A, Casari G, Rugarli EI.

Hum Mol Genet. 2009 Jun 1;18(11):2001-13. doi: 10.1093/hmg/ddp124. Epub 2009 Mar 16.

3.

Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.

Di Bella D, Lazzaro F, Brusco A, Plumari M, Battaglia G, Pastore A, Finardi A, Cagnoli C, Tempia F, Frontali M, Veneziano L, Sacco T, Boda E, Brussino A, Bonn F, Castellotti B, Baratta S, Mariotti C, Gellera C, Fracasso V, Magri S, Langer T, Plevani P, Di Donato S, Muzi-Falconi M, Taroni F.

Nat Genet. 2010 Apr;42(4):313-21. doi: 10.1038/ng.544. Epub 2010 Mar 7.

PMID:
20208537
4.

Mouse brain expression patterns of Spg7, Afg3l1, and Afg3l2 transcripts, encoding for the mitochondrial m-AAA protease.

Sacco T, Boda E, Hoxha E, Pizzo R, Cagnoli C, Brusco A, Tempia F.

BMC Neurosci. 2010 Apr 28;11:55. doi: 10.1186/1471-2202-11-55.

5.

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.

J Neurosci. 2008 Mar 12;28(11):2827-36. doi: 10.1523/JNEUROSCI.4677-07.2008.

6.

Variable and tissue-specific subunit composition of mitochondrial m-AAA protease complexes linked to hereditary spastic paraplegia.

Koppen M, Metodiev MD, Casari G, Rugarli EI, Langer T.

Mol Cell Biol. 2007 Jan;27(2):758-67. Epub 2006 Nov 13.

7.

Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases.

Pierson TM, Adams D, Bonn F, Martinelli P, Cherukuri PF, Teer JK, Hansen NF, Cruz P, Mullikin For The Nisc Comparative Sequencing Program JC, Blakesley RW, Golas G, Kwan J, Sandler A, Fuentes Fajardo K, Markello T, Tifft C, Blackstone C, Rugarli EI, Langer T, Gahl WA, Toro C.

PLoS Genet. 2011 Oct;7(10):e1002325. doi: 10.1371/journal.pgen.1002325. Epub 2011 Oct 13.

8.

AFG3L2 supports mitochondrial protein synthesis and Purkinje cell survival.

Almajan ER, Richter R, Paeger L, Martinelli P, Barth E, Decker T, Larsson NG, Kloppenburg P, Langer T, Rugarli EI.

J Clin Invest. 2012 Nov;122(11):4048-58. doi: 10.1172/JCI64604. Epub 2012 Oct 8.

9.

Respiratory dysfunction by AFG3L2 deficiency causes decreased mitochondrial calcium uptake via organellar network fragmentation.

Maltecca F, De Stefani D, Cassina L, Consolato F, Wasilewski M, Scorrano L, Rizzuto R, Casari G.

Hum Mol Genet. 2012 Sep 1;21(17):3858-70. doi: 10.1093/hmg/dds214. Epub 2012 Jun 7.

10.

Autocatalytic processing of m-AAA protease subunits in mitochondria.

Koppen M, Bonn F, Ehses S, Langer T.

Mol Biol Cell. 2009 Oct;20(19):4216-24. doi: 10.1091/mbc.E09-03-0218. Epub 2009 Aug 5.

11.
12.

Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia.

Atorino L, Silvestri L, Koppen M, Cassina L, Ballabio A, Marconi R, Langer T, Casari G.

J Cell Biol. 2003 Nov 24;163(4):777-87. Epub 2003 Nov 17.

13.

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.

J Clin Invest. 2015 Jan;125(1):263-74. doi: 10.1172/JCI74770. Epub 2014 Dec 8.

14.

In vivo detection of oxidized proteins: a practical approach to tissue-derived mitochondria.

Maltecca F, Casari G.

Methods Mol Biol. 2010;648:257-67. doi: 10.1007/978-1-60761-756-3_17.

PMID:
20700718
15.

A novel frameshift mutation in the AFG3L2 gene in a patient with spinocerebellar ataxia.

Musova Z, Kaiserova M, Kriegova E, Fillerova R, Vasovcak P, Santava A, Mensikova K, Zumrova A, Krepelova A, Sedlacek Z, Kanovsky P.

Cerebellum. 2014 Jun;13(3):331-7. doi: 10.1007/s12311-013-0538-z.

PMID:
24272953
16.

Identification and characterization of AFG3L2, a novel paraplegin-related gene.

Banfi S, Bassi MT, Andolfi G, Marchitiello A, Zanotta S, Ballabio A, Casari G, Franco B.

Genomics. 1999 Jul 1;59(1):51-8.

PMID:
10395799
17.

A 76-year-old woman presenting with adult-onset, slowly progressive cerebellar symptoms.

Takahashi H, Hayashi S, Sato T.

Neuropathology. 2002 Dec;22(4):360-1. No abstract available.

PMID:
12564780
18.

Overexpression of HGF attenuates the degeneration of Purkinje cells and Bergmann glia in a knockin mouse model of spinocerebellar ataxia type 7.

Noma S, Ohya-Shimada W, Kanai M, Ueda K, Nakamura T, Funakoshi H.

Neurosci Res. 2012 Jun;73(2):115-21. doi: 10.1016/j.neures.2012.03.001. Epub 2012 Mar 15.

PMID:
22426494
19.

Aminopyridines correct early dysfunction and delay neurodegeneration in a mouse model of spinocerebellar ataxia type 1.

Hourez R, Servais L, Orduz D, Gall D, Millard I, de Kerchove d'Exaerde A, Cheron G, Orr HT, Pandolfo M, Schiffmann SN.

J Neurosci. 2011 Aug 17;31(33):11795-807. doi: 10.1523/JNEUROSCI.0905-11.2011.

20.

Deranged calcium signaling in Purkinje cells and pathogenesis in spinocerebellar ataxia 2 (SCA2) and other ataxias.

Kasumu A, Bezprozvanny I.

Cerebellum. 2012 Sep;11(3):630-9. doi: 10.1007/s12311-010-0182-9. Review.

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk