Genetic screening of ANXA11 revealed novel mutations linked to amyotrophic lateral sclerosis

Teyssou, Elisa; Muratet, François; Amador, Maria-Del-Mar; Ferrien, Mélanie; Lautrette, Géraldine; Machat, Selma; Boillée, Séverine; Larmonier, Thierry; Saker, Safaa; LeGuern, Eric; Cazeneuve, Cécile; Marie, Yannick; Guégan, Justine; Gyorgy, Beata; Cintas, Pascal; Meininger, Vincent; Forestier, Nadine Le; Salachas, François; Couratier, Philippe; Camu, William; Seilhean, Danielle; Millecamps, Stéphanie

doi:10.1016/j.neurobiolaging.2020.10.015

Cited by 27 publications

(41 citation statements)

References 37 publications

(60 reference statements)

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“…The clinical phenotypes of ANXA11 -mutated ALS vary, and differ even in patients harboring the same mutation [ 6 , 7 , 9 ]. Autopsy findings of two patients harboring N-terminal ANXA11 mutation have been reported.…”

Section: To the Editormentioning

confidence: 99%

“…Autopsy findings of two patients harboring N-terminal ANXA11 mutation have been reported. One patient with p.D40G ANXA11 mutation showed the features of classical ALS [ 6 ], while the other with p.G38R ANXA11 mutation showed those of ALS-TDP with frontotemporal lobar degeneration (FTLD)-TDP type A [ 4 , 7 ]. Both patients showed aggregation of 43 kDa TAR-DNA-binding protein (TDP-43) and annexin A11 in neurons (Table 2 ).…”

Section: To the Editormentioning

confidence: 99%

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A novel splicing variant of ANXA11 in a patient with amyotrophic lateral sclerosis: histologic and biochemical features

Sainouchi

Hatano

Tada

et al. 2021

acta neuropathol commun

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Section: To the Editormentioning

confidence: 99%

Section: To the Editormentioning

confidence: 99%

A novel splicing variant of ANXA11 in a patient with amyotrophic lateral sclerosis: histologic and biochemical features

Sainouchi

Hatano

Tada

et al. 2021

acta neuropathol commun

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“…Finally, and most convincingly, the R230C variant and several other SNPs in the N- and C-terminal region of Anxa11 have been associated with neurodegenerative and autoimmune disorders, such as ALS [ 429 , 430 , 431 , 432 , 433 ] and sarcoidosis [ 427 , 428 , 429 ]. These polymorphism could be explored further and might serve as a marker for anticancer drug performance in metastatic colorectal cancer [ 423 , 424 , 425 ].…”

Section: Discussionmentioning

confidence: 99%

“…Finally, Anxa11 mutations were found in the rare and related neurodegenerative diseases amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. Numerous mutations in both the N-terminal tail and the C-terminal membrane binding region of Anxa11 have now been described and may account for up to 6% of familial ALS in Chinese populations [ 429 , 430 , 431 , 432 ].…”

Section: Anxa11mentioning

confidence: 99%

Annexin Animal Models—From Fundamental Principles to Translational Research

Grewal

Rentero

Enrich

et al. 2021

IJMS

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Routine manipulation of the mouse genome has become a landmark in biomedical research. Traits that are only associated with advanced developmental stages can now be investigated within a living organism, and the in vivo analysis of corresponding phenotypes and functions advances the translation into the clinical setting. The annexins, a family of closely related calcium (Ca2+)- and lipid-binding proteins, are found at various intra- and extracellular locations, and interact with a broad range of membrane lipids and proteins. Their impacts on cellular functions has been extensively assessed in vitro, yet annexin-deficient mouse models generally develop normally and do not display obvious phenotypes. Only in recent years, studies examining genetically modified annexin mouse models which were exposed to stress conditions mimicking human disease often revealed striking phenotypes. This review is the first comprehensive overview of annexin-related research using animal models and their exciting future use for relevant issues in biology and experimental medicine.

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“…[56] Several different mutations were identified in annexin A11 by screening a large cohort of familial ALS patients. [56,57] An implication of this protein in human disease is not new, as deregulation and mutations in the ANXA11 gene are known to be associated to autoimmune diseases, sarcoidosis and cancer. [58] Annexin A11 is a 56 kDa protein that belongs to the large family of Ca 2+ -binding annexins whose function is lipid binding.…”

Section: The Scenario Gets More Complex: Calcium Regulated Interactiomentioning

confidence: 99%

The seesaw between normal function and protein aggregation: How functional interactions may increase protein solubility

2021

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Protein aggregation has been studied for at least 3 decades, and many of the principles that regulate this event are relatively well understood. Here, however, we present a different perspective to explain why proteins aggregate: we argue that aggregation may occur as a side-effect of the lack of one or more natural partners that, under physiologic conditions, would act as chaperones. This would explain why the same surfaces that have evolved for functional purposes are also those that favour aggregation. In the course of reviewing this field, we substantiate our hypothesis with three paradigmatic examples that argue for the generality of our proposal. An obvious corollary of this hypothesis is, of course, that targeting the physiological partners of a protein could be the most direct and specific approach to designing anti-aggregation molecules. Our analysis may thus inform a different strategy for combating diseases of protein aggregation and misfolding.

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Genetic screening of ANXA11 revealed novel mutations linked to amyotrophic lateral sclerosis

Cited by 27 publications

References 37 publications

A novel splicing variant of ANXA11 in a patient with amyotrophic lateral sclerosis: histologic and biochemical features

A novel splicing variant of ANXA11 in a patient with amyotrophic lateral sclerosis: histologic and biochemical features

Annexin Animal Models—From Fundamental Principles to Translational Research

The seesaw between normal function and protein aggregation: How functional interactions may increase protein solubility

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