m-AAA proteases

mitochondrial inner membrane ATP-dependent metalloprotease; required for maintenance of mitochondrial functions; member of the AAA family of P-loop ATPases (AAA=ATPase Associated with diverse cellular Activities)

Also Known As:

Networked: 26 relevant articles (0 outcomes, 0 trials/studies)

Bio-Agent Context: Research Results

Experts

1.	Langer, Thomas: 13 articles (01/2019 - 11/2003)
2.	Rugarli, Elena I: 9 articles (01/2019 - 10/2005)
3.	Koppen, Mirko: 4 articles (10/2009 - 11/2003)
4.	Casari, Giorgio: 3 articles (01/2019 - 11/2003)
5.	Martinelli, Paola: 3 articles (12/2016 - 01/2010)
6.	Bonn, Florian: 3 articles (10/2011 - 10/2009)
7.	Ehses, Sarah: 3 articles (12/2009 - 10/2005)
8.	Charif, Majida: 2 articles (06/2020 - 01/2015)
9.	Goizet, Cyril: 2 articles (06/2020 - 01/2015)
10.	Lenaers, Guy: 2 articles (06/2020 - 01/2015)

Related Diseases

1.	Neurodegenerative Diseases (Neurodegenerative Disease) 12/01/2018 - "This case suggests that coincidental mutations in both components of the mitochondrial m-AAA protease may result in a complex phenotype and reveals a crucial role for OPA1 processing in the pathogenesis of neurodegenerative disease caused by m-AAA defects." 03/01/2018 - "Our results pledge for a novel view on m-AAA proteases that integrates their pleiotropic functions in mitochondria to explain the pathogenesis of associated neurodegenerative disorders." 10/01/2009 - "These findings might be of relevance for the pathogenesis of neurodegenerative disorders associated with mutations in different m-AAA protease subunits." 01/01/2019 - "Spinocerebellar ataxia 28 is an autosomal dominant neurodegenerative disorder caused by missense mutations affecting the proteolytic domain of AFG3L2, a major component of the mitochondrial m-AAA protease. " 02/11/2011 - "Mutations in subunits of mitochondrial m-AAA proteases have been associated with different neurodegenerative disorders in human, raising questions on the functional differences between homo- and hetero-oligomeric AAA proteases. "
2.	Hereditary Spastic Paraplegia 05/01/2010 - "An autosomal recessive form of hereditary spastic paraplegia (AR-HSP) is primarily caused by mutations in the SPG7 gene, which codes for paraplegin, a subunit of the hetero-oligomeric m-AAA protease in mitochondria. " 10/20/2009 - "Paraplegin is an m-AAA protease of the mitochondrial inner membrane that is linked to hereditary spastic paraplegias. " 01/01/2007 - "Mutations in the m-AAA protease subunit paraplegin cause axonal degeneration in hereditary spastic paraplegia (HSP), but the basis for the unexpected tissue specificity is not understood. " 01/01/2007 - "Variable and tissue-specific subunit composition of mitochondrial m-AAA protease complexes linked to hereditary spastic paraplegia." 06/01/2006 - "Translating m-AAA protease function in mitochondria to hereditary spastic paraplegia."
3.	Spinocerebellar Ataxias (Spinocerebellar Ataxia) 01/01/2017 - "Mutations in the gene AFG3L2 that encodes a subunit of the mitochondrial m-AAA protease have previously been shown to cause spinocerebellar ataxia type 28 (SCA28). " 10/06/2016 - "Mutations in subunits of mitochondrial m-AAA proteases in the inner membrane cause neurodegeneration in spinocerebellar ataxia (SCA28) and hereditary spastic paraplegia (HSP7). " 10/01/2010 - "Spinocerebellar ataxia type 28 is an autosomal dominant form of cerebellar ataxia (ADCA) caused by mutations in AFG3L2, a gene that encodes a subunit of the mitochondrial m-AAA protease. " 01/01/2019 - "AFG3L2, which encodes one of the subunits of the m-AAA protease, is mutated in spinocerebellar ataxia SCA28 and in infantile syndromes characterized by spastic-ataxia, epilepsy and premature death. " 06/01/2017 - "Mutations in AFG3L2, a gene encoding a subunit of the mitochondrion m-AAA protease, cause spinocerebellar ataxia type 28 and recessive spastic ataxia type 5. Neuroimaging shows cerebellar atrophy. "
4.	Spastic Paraplegia Type 7 11/23/2023 - "Spastic paraplegia 7 (SPG7) is an m-AAA protease subunit involved in mitochondrial morphology and physiology. " 01/01/2015 - "OPA1 cleavage is regulated by two m-AAA proteases, SPG7 and AFG3L2, which are, respectively involved in Spastic Paraplegia 7 and Spino-Cerebellar Ataxia 28. " 12/01/2019 - "The mitochondrial matrix ATPase associated with diverse cellular activities (m-AAA) protease spastic paraplegia 7 (SPG7) has been recently implicated as either a negative or positive regulatory component of the mitochondrial permeability transition pore (mPTP) by two research groups. "
5.	Spastic Ataxia 10/01/2011 - "Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases." 01/01/2019 - "AFG3L2, which encodes one of the subunits of the m-AAA protease, is mutated in spinocerebellar ataxia SCA28 and in infantile syndromes characterized by spastic-ataxia, epilepsy and premature death. " 06/01/2017 - "Mutations in AFG3L2, a gene encoding a subunit of the mitochondrion m-AAA protease, cause spinocerebellar ataxia type 28 and recessive spastic ataxia type 5. Neuroimaging shows cerebellar atrophy. "

Related Drugs and Biologics

1.	Peptide Hydrolases (Proteases)
2.	ATPases Associated with Diverse Cellular Activities
3.	m-AAA proteases
4.	Proteins (Proteins, Gene)
5.	Mitochondrial Permeability Transition Pore
6.	Netrin-1