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Identification of the calpain-generated toxic fragment of ataxin-3 protein provides new avenues for therapy of Machado-Joseph disease| Spinocerebellar ataxia type 3.

Neuropathology and applied neurobiology

SimÔes AT, Carmona V, Duarte-Neves J, Cunha-Santos J, Pereira de Almeida L.
PMID: 34273111
Neuropathol Appl Neurobiol. 2022 Feb;48(1):e12748. doi: 10.1111/nan.12748. Epub 2021 Aug 23.

AIMS: Machado-Joseph disease (MJD) is the most frequent dominantly inherited cerebellar ataxia worldwide. Expansion of a CAG trinucleotide in the MJD1 gene translates into a polyglutamine tract within ataxin-3, which upon proteolysis may lead to MJD. The aim of...

MiRNA-Mediated Knockdown of ATXN3 Alleviates Molecular Disease Hallmarks in a Mouse Model for Spinocerebellar Ataxia Type 3.

Nucleic acid therapeutics

Nobre RJ, Lobo DD, Henriques C, Duarte SP, Lopes SM, Silva AC, Lopes MM, Mariet F, Schwarz LK, Baatje MS, Ferreira V, VallĂšs A, Pereira de Almeida L, Evers MM, Toonen LJA.
PMID: 34878314
Nucleic Acid Ther. 2021 Dec 07; doi: 10.1089/nat.2021.0020. Epub 2021 Dec 07.

Spinocerebellar ataxia type 3 (SCA3) is a neurodegenerative disorder caused by the expansion of a CAG repeat in the

Characterization of Lifestyle in Spinocerebellar Ataxia Type 3 and Association with Disease Severity.

Movement disorders : official journal of the Movement Disorder Society

Hengel H, Martus P, Faber J, Garcia-Moreno H, Solanky N, Giunti P, Klockgether T, Reetz K, van de Warrenburg BP, Pereira de Almeida L, Santana MM, JanuĂĄrio C, Silva P, Thieme A, Infante J, de Vries J, Lima M, Ferreira AF, Bushara K, Jacobi H, Onyike C, Schmahmann JD, HĂŒbener-Schmid J, Synofzik M, Schöls L.
PMID: 34713931
Mov Disord. 2021 Oct 29; doi: 10.1002/mds.28844. Epub 2021 Oct 29.

BACKGROUND: Lifestyle could influence the course of hereditary ataxias, but representative data are missing.OBJECTIVE: The objective of this study was to characterize lifestyle in spinocerebellar ataxia type 3 (SCA3) and investigate possible associations with disease parameters.METHODS: In a prospective...

Extracellular Vesicles Physiological Role and the Particular Case of Disease-Spreading Mechanisms in Polyglutamine Diseases.

International journal of molecular sciences

Moreira R, Mendonça LS, Pereira de Almeida L.
PMID: 34830171
Int J Mol Sci. 2021 Nov 13;22(22). doi: 10.3390/ijms222212288.

Recent research demonstrated pathological spreading of the disease-causing proteins from one focal point across other brain regions for some neurodegenerative diseases, such as Parkinson's and Alzheimer's disease. Spreading mediated by extracellular vesicles is one of the proposed disease-spreading mechanisms....

miRNA-31 Improves Cognition and Abolishes Amyloid-ÎČ Pathology by Targeting APP and BACE1 in an Animal Model of Alzheimer's Disease.

Molecular therapy. Nucleic acids

Barros-Viegas AT, Carmona V, Ferreiro E, Guedes J, Cardoso AM, Cunha P, Pereira de Almeida L, Resende de Oliveira C, Pedro de Magalhães J, Peça J, Cardoso AL.
PMID: 32069773
Mol Ther Nucleic Acids. 2020 Mar 06;19:1219-1236. doi: 10.1016/j.omtn.2020.01.010. Epub 2020 Jan 17.

Alzheimer's disease (AD) is the most common form of dementia worldwide, characterized by progressive memory impairment, behavioral changes, and, ultimately, loss of consciousness and death. Recently, microRNA (miRNA) dysfunction has been associated with increased production and impaired clearance of...

Successes and Hurdles in Stem Cells Application and Production for Brain Transplantation.

Frontiers in neuroscience

Henriques D, Moreira R, Schwamborn J, Pereira de Almeida L, Mendonça LS.
PMID: 31802998
Front Neurosci. 2019 Nov 19;13:1194. doi: 10.3389/fnins.2019.01194. eCollection 2019.

Brain regenerative strategies through the transplantation of stem cells hold the potential to promote functional rescue of brain lesions caused either by trauma or neurodegenerative diseases. Most of the positive modulations fostered by stem cells are fueled by bystander...

Tumor-targeted Chlorotoxin-coupled Nanoparticles for Nucleic Acid Delivery to Glioblastoma Cells: A Promising System for Glioblastoma Treatment.

Molecular therapy. Nucleic acids

Costa PM, Cardoso AL, Mendonça LS, Serani A, Custódia C, Conceição M, SimÔes S, Moreira JN, Pereira de Almeida L, Pedroso de Lima MC.
PMID: 23778499
Mol Ther Nucleic Acids. 2013 Jun 18;2:e100. doi: 10.1038/mtna.2013.30.

The present work aimed at the development and application of a lipid-based nanocarrier for targeted delivery of nucleic acids to glioblastoma (GBM). For this purpose, chlorotoxin (CTX), a peptide reported to bind selectively to glioma cells while showing no...

Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition).

Autophagy

Klionsky DJ, Abdel-Aziz AK, Abdelfatah S, Abdellatif M, Abdoli A, Abel S, Abeliovich H, Abildgaard MH, Abudu YP, Acevedo-Arozena A, Adamopoulos IE, Adeli K, Adolph TE, Adornetto A, Aflaki E, Agam G, Agarwal A, Aggarwal BB, Agnello M, Agostinis P, Agrewala JN, Agrotis A, Aguilar PV, Ahmad ST, Ahmed ZM, Ahumada-Castro U, Aits S, Aizawa S, Akkoc Y, Akoumianaki T, Akpinar HA, Al-Abd AM, Al-Akra L, Al-Gharaibeh A, Alaoui-Jamali MA, Alberti S, Alcocer-GĂłmez E, Alessandri C, Ali M, Alim Al-Bari MA, Aliwaini S, Alizadeh J, Almacellas E, Almasan A, Alonso A, Alonso GD, Altan-Bonnet N, Altieri DC, Álvarez ÉMC, Alves S, Alves da Costa C, Alzaharna MM, Amadio M, Amantini C, Amaral C, Ambrosio S, Amer AO, Ammanathan V, An Z, Andersen SU, Andrabi SA, Andrade-Silva M, Andres AM, Angelini S, Ann D, Anozie UC, Ansari MY, Antas P, Antebi A, AntĂłn Z, Anwar T, Apetoh L, Apostolova N, Araki T, Araki Y, Arasaki K, AraĂșjo WL, Araya J, Arden C, ArĂ©valo MA, Arguelles S, Arias E, Arikkath J, Arimoto H, 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Brandts CH, Braun RJ, Braus GH, Bravo-Sagua R, Bravo-San Pedro JM, Brest P, Bringer MA, Briones-Herrera A, Broaddus VC, Brodersen P, Brodsky JL, Brody SL, Bronson PG, Bronstein JM, Brown CN, Brown RE, Brum PC, Brumell JH, Brunetti-Pierri N, Bruno D, Bryson-Richardson RJ, Bucci C, Buchrieser C, Bueno M, Buitrago-Molina LE, Buraschi S, Buch S, Buchan JR, Buckingham EM, Budak H, Budini M, Bultynck G, Burada F, Burgoyne JR, BurĂłn MI, Bustos V, BĂŒttner S, Butturini E, Byrd A, Cabas I, Cabrera-Benitez S, Cadwell K, Cai J, Cai L, Cai Q, CairĂł M, Calbet JA, Caldwell GA, Caldwell KA, Call JA, Calvani R, Calvo AC, Calvo-Rubio Barrera M, Camara NO, Camonis JH, Camougrand N, Campanella M, Campbell EM, Campbell-Valois FX, Campello S, Campesi I, Campos JC, Camuzard O, Cancino J, Candido de Almeida D, Canesi L, Caniggia I, Canonico B, CantĂ­ C, Cao B, Caraglia M, CaramĂ©s B, Carchman EH, Cardenal-Muñoz E, Cardenas C, Cardenas L, Cardoso SM, Carew JS, Carle GF, Carleton G, Carloni S, 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XM, Chen XW, Chen X, Chen Y, Chen YG, Chen Y, Chen Y, Chen YJ, Chen YQ, Chen ZS, Chen Z, Chen ZH, Chen ZJ, Chen Z, Cheng H, Cheng J, Cheng SY, Cheng W, Cheng X, Cheng XT, Cheng Y, Cheng Z, Chen Z, Cheong H, Cheong JK, Chernyak BV, Cherry S, Cheung CFR, Cheung CHA, Cheung KH, Chevet E, Chi RJ, Chiang AKS, Chiaradonna F, Chiarelli R, Chiariello M, Chica N, Chiocca S, Chiong M, Chiou SH, Chiramel AI, ChiurchiĂč V, Cho DH, Choe SK, Choi AMK, Choi ME, Choudhury KR, Chow NS, Chu CT, Chua JP, Chua JJE, Chung H, Chung KP, Chung S, Chung SH, Chung YL, Cianfanelli V, Ciechomska IA, Cifuentes M, Cinque L, Cirak S, Cirone M, Clague MJ, Clarke R, Clementi E, Coccia EM, Codogno P, Cohen E, Cohen MM, Colasanti T, Colasuonno F, Colbert RA, Colell A, Čolić M, Coll NS, Collins MO, Colombo MI, ColĂłn-Ramos DA, Combaret L, Comincini S, Cominetti MR, Consiglio A, Conte A, Conti F, Contu VR, Cookson MR, Coombs KM, Coppens I, Corasaniti MT, Corkery DP, Cordes N, Cortese K, Costa MDC, Costantino S, Costelli P, Coto-Montes A, Crack PJ, Crespo JL, Criollo A, Crippa V, Cristofani R, Csizmadia T, Cuadrado A, Cui B, Cui J, Cui Y, Cui Y, Culetto E, Cumino AC, Cybulsky AV, Czaja MJ, Czuczwar SJ, D'Adamo S, D'Amelio M, D'Arcangelo D, D'Lugos AC, D'Orazi G, da Silva JA, Dafsari HS, Dagda RK, Dagdas Y, Daglia M, Dai X, Dai Y, Dai Y, Dal Col J, Dalhaimer P, Dalla Valle L, Dallenga T, Dalmasso G, Damme M, Dando I, Dantuma NP, Darling AL, Das H, Dasarathy S, Dasari SK, Dash S, Daumke O, Dauphinee AN, Davies JS, DĂĄvila VA, Davis RJ, Davis T, Dayalan Naidu S, De Amicis F, De Bosscher K, De Felice F, De Franceschi L, De Leonibus C, de Mattos Barbosa MG, De Meyer GRY, De Milito A, De Nunzio C, De Palma C, De Santi M, De Virgilio C, De Zio D, Debnath J, DeBosch BJ, Decuypere JP, Deehan MA, Deflorian G, DeGregori J, Dehay B, Del Rio G, Delaney JR, Delbridge LMD, Delorme-Axford E, Delpino MV, Demarchi F, Dembitz V, Demers ND, Deng H, Deng Z, Dengjel J, Dent P, Denton D, DePamphilis ML, Der CJ, Deretic V, Descoteaux A, Devis L, Devkota S, Devuyst O, Dewson G, Dharmasivam M, Dhiman R, di Bernardo D, Di Cristina M, Di Domenico F, Di Fazio P, Di Fonzo A, Di Guardo G, Di Guglielmo GM, Di Leo L, Di Malta C, Di Nardo A, Di Rienzo M, Di Sano F, Diallinas G, Diao J, Diaz-Araya G, DĂ­az-Laviada I, Dickinson JM, Diederich M, DieudĂ© M, Dikic I, Ding S, Ding WX, Dini L, Dinić J, Dinic M, Dinkova-Kostova AT, Dionne MS, Distler JHW, Diwan A, Dixon IMC, Djavaheri-Mergny M, Dobrinski I, Dobrovinskaya O, Dobrowolski R, Dobson RCJ, Đokić J, Dokmeci Emre S, Donadelli M, Dong B, Dong X, Dong Z, Dorn Ii GW, Dotsch V, Dou H, Dou J, Dowaidar M, Dridi S, Drucker L, Du A, Du C, Du G, Du HN, Du LL, du Toit A, Duan SB, Duan X, Duarte SP, Dubrovska A, Dunlop EA, Dupont N, DurĂĄn RV, Dwarakanath BS, Dyshlovoy SA, Ebrahimi-Fakhari D, Eckhart L, Edelstein CL, Efferth T, Eftekharpour E, Eichinger L, Eid N, Eisenberg T, Eissa NT, Eissa S, Ejarque M, El Andaloussi A, El-Hage N, El-Naggar S, Eleuteri AM, El-Shafey ES, Elgendy M, Eliopoulos AG, Elizalde MM, Elks PM, Elsasser HP, Elsherbiny ES, Emerling BM, Emre NCT, Eng CH, Engedal N, Engelbrecht AM, Engelsen AST, Enserink JM, Escalante R, Esclatine A, Escobar-Henriques M, Eskelinen EL, Espert L, Eusebio MO, Fabrias G, Fabrizi C, Facchiano A, Facchiano F, Fadeel B, Fader C, Faesen AC, Fairlie WD, FalcĂł A, Falkenburger BH, Fan D, Fan J, Fan Y, Fang EF, Fang Y, Fang Y, Fanto M, Farfel-Becker T, Faure M, Fazeli G, Fedele AO, Feldman AM, Feng D, Feng J, Feng L, Feng Y, Feng Y, Feng W, Fenz Araujo T, Ferguson TA, FernĂĄndez ÁF, Fernandez-Checa JC, FernĂĄndez-Veledo S, Fernie AR, Ferrante AW, Ferraresi A, Ferrari MF, Ferreira JCB, Ferro-Novick S, Figueras A, Filadi R, Filigheddu N, Filippi-Chiela E, Filomeni G, Fimia GM, Fineschi V, Finetti F, Finkbeiner S, Fisher EA, Fisher PB, Flamigni F, Fliesler SJ, Flo TH, Florance I, Florey O, Florio T, Fodor E, Follo C, Fon EA, Forlino A, Fornai F, Fortini P, Fracassi A, Fraldi A, Franco B, Franco R, Franconi F, Frankel LB, Friedman SL, Fröhlich LF, FrĂŒhbeck G, Fuentes JM, Fujiki Y, Fujita N, Fujiwara Y, Fukuda M, Fulda S, Furic L, Furuya N, Fusco C, Gack MU, Gaffke L, Galadari S, Galasso A, Galindo MF, Gallolu Kankanamalage S, Galluzzi L, Galy V, Gammoh N, Gan B, Ganley IG, Gao F, Gao H, Gao M, Gao P, Gao SJ, Gao W, Gao X, Garcera A, Garcia MN, Garcia VE, GarcĂ­a-Del Portillo F, Garcia-Escudero V, Garcia-Garcia A, Garcia-Macia M, GarcĂ­a-Moreno D, Garcia-Ruiz C, GarcĂ­a-Sanz P, Garg AD, Gargini R, Garofalo T, Garry RF, Gassen NC, Gatica D, Ge L, Ge W, Geiss-Friedlander R, Gelfi C, Genschik P, Gentle IE, Gerbino V, Gerhardt C, Germain K, Germain M, Gewirtz DA, Ghasemipour Afshar E, Ghavami S, Ghigo A, Ghosh M, Giamas G, Giampietri C, Giatromanolaki A, Gibson GE, Gibson SB, Ginet V, Giniger E, Giorgi C, Girao H, Girardin SE, Giridharan M, Giuliano S, Giulivi C, Giuriato S, Giustiniani J, Gluschko A, Goder V, Goginashvili A, Golab J, Goldstone DC, Golebiewska A, Gomes LR, Gomez R, 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PMID: 33634751
Autophagy. 2021 Jan;17(1):1-382. doi: 10.1080/15548627.2020.1797280. Epub 2021 Feb 08.

In 2008, we published the first set of guidelines for standardizing research in autophagy. Since then, this topic has received increasing attention, and many scientists have entered the field. Our knowledge base and relevant new technologies have also been...

Mesenchymal Stromal Cells' Therapy for Polyglutamine Disorders: Where Do We Stand and Where Should We Go?.

Frontiers in cellular neuroscience

Barros I, Marcelo A, Silva TP, Barata J, Rufino-Ramos D, Pereira de Almeida L, Miranda CO.
PMID: 33132851
Front Cell Neurosci. 2020 Oct 06;14:584277. doi: 10.3389/fncel.2020.584277. eCollection 2020.

Polyglutamine (polyQ) diseases are a group of inherited neurodegenerative disorders caused by the expansion of the cytosine-adenine-guanine (CAG) repeat. This mutation encodes extended glutamine (Q) tract in the disease protein, resulting in the alteration of its conformation/physiological role and...

Using genetically modified extracellular vesicles as a non-invasive strategy to evaluate brain-specific cargo.

Biomaterials

Rufino-Ramos D, Lule S, Mahjoum S, Ughetto S, Cristopher Bragg D, Pereira de Almeida L, Breakefield XO, Breyne K.
PMID: 35033904
Biomaterials. 2022 Jan 08;281:121366. doi: 10.1016/j.biomaterials.2022.121366. Epub 2022 Jan 08.

The lack of techniques to trace brain cell behavior in vivo hampers the ability to monitor status of cells in a living brain. Extracellular vesicles (EVs), nanosized membrane-surrounded vesicles, released by virtually all brain cells might be able to...

Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition).

Autophagy

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PMID: 33634751
Autophagy. 2021 Jan;17(1):1-382. doi: 10.1080/15548627.2020.1797280. Epub 2021 Feb 08.

In 2008, we published the first set of guidelines for standardizing research in autophagy. Since then, this topic has received increasing attention, and many scientists have entered the field. Our knowledge base and relevant new technologies have also been...

The autophagy-enhancing drug carbamazepine improves neuropathology and motor impairment in mouse models of Machado-Joseph disease.

Neuropathology and applied neurobiology

Vasconcelos-Ferreira A, Carmo-Silva S, CodĂȘsso JM, Silva P, Martinez ARM, França MC, NĂłbrega C, Pereira de Almeida L.
PMID: 34432315
Neuropathol Appl Neurobiol. 2022 Feb;48(1):e12763. doi: 10.1111/nan.12763. Epub 2021 Oct 13.

AIMS: Machado-Joseph disease (MJD), or spinocerebellar ataxia type 3 (SCA3), is the most common autosomal dominantly-inherited ataxia worldwide and is characterised by the accumulation of mutant ataxin-3 (mutATXN3) in different brain regions, leading to neurodegeneration. Currently, there are no...

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