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Items: 1 to 50 of 132

1.

Low-Cost Gait Analysis for Behavioral Phenotyping of Mouse Models of Neuromuscular Disease.

Wertman V, Gromova A, La Spada AR, Cortes CJ.

J Vis Exp. 2019 Jul 18;(149). doi: 10.3791/59878.

PMID:
31380846
2.

Mutant huntingtin impairs PNKP and ATXN3, disrupting DNA repair and transcription.

Gao R, Chakraborty A, Geater C, Pradhan S, Gordon KL, Snowden J, Yuan S, Dickey AS, Choudhary S, Ashizawa T, Ellerby LM, La Spada AR, Thompson LM, Hazra TK, Sarkar PS.

Elife. 2019 Apr 17;8. pii: e42988. doi: 10.7554/eLife.42988.

3.

Gene expression analysis reveals early dysregulation of disease pathways and links Chmp7 to pathogenesis of spinal and bulbar muscular atrophy.

Malik B, Devine H, Patani R, La Spada AR, Hanna MG, Greensmith L.

Sci Rep. 2019 Mar 5;9(1):3539. doi: 10.1038/s41598-019-40118-3.

4.

Astroglial-targeted expression of the fragile X CGG repeat premutation in mice yields RAN translation, motor deficits and possible evidence for cell-to-cell propagation of FXTAS pathology.

Wenzel HJ, Murray KD, Haify SN, Hunsaker MR, Schwartzer JJ, Kim K, La Spada AR, Sopher BL, Hagerman PJ, Raske C, Severijnen LWFM, Willemsen R, Hukema RK, Berman RF.

Acta Neuropathol Commun. 2019 Feb 26;7(1):27. doi: 10.1186/s40478-019-0677-7.

5.

Overriding FUS autoregulation in mice triggers gain-of-toxic dysfunctions in RNA metabolism and autophagy-lysosome axis.

Ling SC, Dastidar SG, Tokunaga S, Ho WY, Lim K, Ilieva H, Parone PA, Tyan SH, Tse TM, Chang JC, Platoshyn O, Bui NB, Bui A, Vetto A, Sun S, McAlonis-Downes M, Han JS, Swing D, Kapeli K, Yeo GW, Tessarollo L, Marsala M, Shaw CE, Tucker-Kellogg G, La Spada AR, Lagier-Tourenne C, Da Cruz S, Cleveland DW.

Elife. 2019 Feb 12;8. pii: e40811. doi: 10.7554/eLife.40811.

6.

A Novel Therapy for Huntington's Disease.

La Spada AR.

Cerebrum. 2018 Sep 1;2018. pii: cer-11-18. eCollection 2018 Sep-Oct.

7.

Metabolic and Organelle Morphology Defects in Mice and Human Patients Define Spinocerebellar Ataxia Type 7 as a Mitochondrial Disease.

Ward JM, Stoyas CA, Switonski PM, Ichou F, Fan W, Collins B, Wall CE, Adanyeguh I, Niu C, Sopher BL, Kinoshita C, Morrison RS, Durr A, Muotri AR, Evans RM, Mochel F, La Spada AR.

Cell Rep. 2019 Jan 29;26(5):1189-1202.e6. doi: 10.1016/j.celrep.2019.01.028.

8.

Antisense oligonucleotides targeting mutant Ataxin-7 restore visual function in a mouse model of spinocerebellar ataxia type 7.

Niu C, Prakash TP, Kim A, Quach JL, Huryn LA, Yang Y, Lopez E, Jazayeri A, Hung G, Sopher BL, Brooks BP, Swayze EE, Bennett CF, La Spada AR.

Sci Transl Med. 2018 Oct 31;10(465). pii: eaap8677. doi: 10.1126/scitranslmed.aap8677.

PMID:
30381411
9.

CCP1 promotes mitochondrial fusion and motility to prevent Purkinje cell neuron loss in pcd mice.

Gilmore-Hall S, Kuo J, Ward JM, Zahra R, Morrison RS, Perkins G, La Spada AR.

J Cell Biol. 2019 Jan 7;218(1):206-219. doi: 10.1083/jcb.201709028. Epub 2018 Oct 18.

10.

Converging pathways in neurodegeneration, from genetics to mechanisms.

Gan L, Cookson MR, Petrucelli L, La Spada AR.

Nat Neurosci. 2018 Oct;21(10):1300-1309. doi: 10.1038/s41593-018-0237-7. Epub 2018 Sep 26. Review.

PMID:
30258237
12.

TFEB dysregulation as a driver of autophagy dysfunction in neurodegenerative disease: Molecular mechanisms, cellular processes, and emerging therapeutic opportunities.

Cortes CJ, La Spada AR.

Neurobiol Dis. 2019 Feb;122:83-93. doi: 10.1016/j.nbd.2018.05.012. Epub 2018 May 28. Review.

PMID:
29852219
13.

Fasting Activates Fatty Acid Oxidation to Enhance Intestinal Stem Cell Function during Homeostasis and Aging.

Mihaylova MM, Cheng CW, Cao AQ, Tripathi S, Mana MD, Bauer-Rowe KE, Abu-Remaileh M, Clavain L, Erdemir A, Lewis CA, Freinkman E, Dickey AS, La Spada AR, Huang Y, Bell GW, Deshpande V, Carmeliet P, Katajisto P, Sabatini DM, Yilmaz ÖH.

Cell Stem Cell. 2018 May 3;22(5):769-778.e4. doi: 10.1016/j.stem.2018.04.001.

14.

Senataxin mutations elicit motor neuron degeneration phenotypes and yield TDP-43 mislocalization in ALS4 mice and human patients.

Bennett CL, Dastidar SG, Ling SC, Malik B, Ashe T, Wadhwa M, Miller DB, Lee C, Mitchell MB, van Es MA, Grunseich C, Chen Y, Sopher BL, Greensmith L, Cleveland DW, La Spada AR.

Acta Neuropathol. 2018 Sep;136(3):425-443. doi: 10.1007/s00401-018-1852-9. Epub 2018 May 3.

15.

MAP4K3 mediates amino acid-dependent regulation of autophagy via phosphorylation of TFEB.

Hsu CL, Lee EX, Gordon KL, Paz EA, Shen WC, Ohnishi K, Meisenhelder J, Hunter T, La Spada AR.

Nat Commun. 2018 Mar 5;9(1):942. doi: 10.1038/s41467-018-03340-7.

16.

Selective modulation of the androgen receptor AF2 domain rescues degeneration in spinal bulbar muscular atrophy.

Badders NM, Korff A, Miranda HC, Vuppala PK, Smith RB, Winborn BJ, Quemin ER, Sopher BL, Dearman J, Messing J, Kim NC, Moore J, Freibaum BD, Kanagaraj AP, Fan B, Tillman H, Chen PC, Wang Y, Freeman BB III, Li Y, Kim HJ, La Spada AR, Taylor JP.

Nat Med. 2018 May;24(4):427-437. doi: 10.1038/nm.4500. Epub 2018 Mar 5.

17.

X-Linked Spinal and Bulbar Muscular Atrophy: From Clinical Genetic Features and Molecular Pathology to Mechanisms Underlying Disease Toxicity.

Cortes CJ, La Spada AR.

Adv Exp Med Biol. 2018;1049:103-133. doi: 10.1007/978-3-319-71779-1_5. Review.

PMID:
29427100
18.

Mitochondrial dysfunction in iPSC-derived neurons of subjects with chronic mountain sickness.

Zhao H, Perkins G, Yao H, Callacondo D, Appenzeller O, Ellisman M, La Spada AR, Haddad GG.

J Appl Physiol (1985). 2018 Sep 1;125(3):832-840. doi: 10.1152/japplphysiol.00689.2017. Epub 2017 Dec 21.

19.

The CAG-polyglutamine repeat diseases: a clinical, molecular, genetic, and pathophysiologic nosology.

Stoyas CA, La Spada AR.

Handb Clin Neurol. 2018;147:143-170. doi: 10.1016/B978-0-444-63233-3.00011-7. Review.

PMID:
29325609
20.

Therapy development in Huntington disease: From current strategies to emerging opportunities.

Dickey AS, La Spada AR.

Am J Med Genet A. 2018 Apr;176(4):842-861. doi: 10.1002/ajmg.a.38494. Epub 2017 Dec 8. Review.

21.

PPARδ activation by bexarotene promotes neuroprotection by restoring bioenergetic and quality control homeostasis.

Dickey AS, Sanchez DN, Arreola M, Sampat KR, Fan W, Arbez N, Akimov S, Van Kanegan MJ, Ohnishi K, Gilmore-Hall SK, Flores AL, Nguyen JM, Lomas N, Hsu CL, Lo DC, Ross CA, Masliah E, Evans RM, La Spada AR.

Sci Transl Med. 2017 Dec 6;9(419). pii: eaal2332. doi: 10.1126/scitranslmed.aal2332.

22.

The replicative lifespan-extending deletion of SGF73 results in altered ribosomal gene expression in yeast.

Mason AG, Garza RM, McCormick MA, Patel B, Kennedy BK, Pillus L, La Spada AR.

Aging Cell. 2017 Aug;16(4):785-796. doi: 10.1111/acel.12611. Epub 2017 May 31.

23.

Adenylyl cyclase activating polypeptide reduces phosphorylation and toxicity of the polyglutamine-expanded androgen receptor in spinobulbar muscular atrophy.

Polanco MJ, Parodi S, Piol D, Stack C, Chivet M, Contestabile A, Miranda HC, Lievens PM, Espinoza S, Jochum T, Rocchi A, Grunseich C, Gainetdinov RR, Cato AC, Lieberman AP, La Spada AR, Sambataro F, Fischbeck KH, Gozes I, Pennuto M.

Sci Transl Med. 2016 Dec 21;8(370):370ra181. doi: 10.1126/scitranslmed.aaf9526.

PMID:
28003546
24.

Transcriptional regulation of core autophagy and lysosomal genes by the androgen receptor promotes prostate cancer progression.

Blessing AM, Rajapakshe K, Reddy Bollu L, Shi Y, White MA, Pham AH, Lin C, Jonsson P, Cortes CJ, Cheung E, La Spada AR, Bast RC Jr, Merchant FA, Coarfa C, Frigo DE.

Autophagy. 2017 Mar 4;13(3):506-521. doi: 10.1080/15548627.2016.1268300. Epub 2016 Dec 15.

25.

Increased 4E-BP1 Expression Protects against Diet-Induced Obesity and Insulin Resistance in Male Mice.

Tsai SY, Rodriguez AA, Dastidar SG, Del Greco E, Carr KL, Sitzmann JM, Academia EC, Viray CM, Martinez LL, Kaplowitz BS, Ashe TD, La Spada AR, Kennedy BK.

Cell Rep. 2016 Aug 16;16(7):1903-14. doi: 10.1016/j.celrep.2016.07.029. Epub 2016 Aug 4.

26.

Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition).

Klionsky DJ, Abdelmohsen K, Abe A, Abedin MJ, Abeliovich H, Acevedo Arozena A, Adachi H, Adams CM, Adams PD, Adeli K, Adhihetty PJ, Adler SG, Agam G, Agarwal R, Aghi MK, Agnello M, Agostinis P, Aguilar PV, Aguirre-Ghiso J, Airoldi EM, Ait-Si-Ali S, Akematsu T, Akporiaye ET, Al-Rubeai M, Albaiceta GM, Albanese C, Albani D, Albert ML, Aldudo J, Algül H, Alirezaei M, Alloza I, Almasan A, Almonte-Beceril M, Alnemri ES, Alonso C, Altan-Bonnet N, Altieri DC, Alvarez S, Alvarez-Erviti L, Alves S, Amadoro G, Amano A, Amantini C, Ambrosio S, Amelio I, Amer AO, Amessou M, Amon A, An Z, Anania FA, Andersen SU, Andley UP, Andreadi CK, Andrieu-Abadie N, Anel A, Ann DK, Anoopkumar-Dukie S, Antonioli M, Aoki H, Apostolova N, Aquila S, Aquilano K, Araki K, Arama E, Aranda A, Araya J, Arcaro A, Arias E, Arimoto H, Ariosa AR, Armstrong JL, Arnould T, Arsov I, Asanuma K, Askanas V, Asselin E, Atarashi R, Atherton SS, Atkin JD, Attardi LD, Auberger P, Auburger G, Aurelian L, Autelli R, Avagliano L, Avantaggiati ML, Avrahami L, Awale S, Azad N, Bachetti T, Backer JM, Bae DH, Bae JS, Bae ON, Bae SH, Baehrecke EH, Baek SH, Baghdiguian S, Bagniewska-Zadworna A, Bai H, Bai J, Bai XY, Bailly Y, Balaji KN, Balduini W, Ballabio A, Balzan R, Banerjee R, Bánhegyi G, Bao H, Barbeau B, Barrachina MD, Barreiro E, Bartel B, Bartolomé A, Bassham DC, Bassi MT, Bast RC Jr, Basu A, Batista MT, Batoko H, Battino M, Bauckman K, Baumgarner BL, Bayer KU, Beale R, Beaulieu JF, Beck GR Jr, Becker C, Beckham JD, Bédard PA, Bednarski PJ, Begley TJ, Behl C, Behrends C, Behrens GM, Behrns KE, Bejarano E, Belaid A, Belleudi F, Bénard G, Berchem G, Bergamaschi D, Bergami M, Berkhout B, Berliocchi L, Bernard A, Bernard M, Bernassola F, Bertolotti A, Bess AS, Besteiro S, Bettuzzi S, Bhalla S, Bhattacharyya S, Bhutia SK, Biagosch C, Bianchi MW, Biard-Piechaczyk M, Billes V, Bincoletto C, Bingol B, Bird SW, Bitoun M, Bjedov I, Blackstone C, Blanc L, Blanco GA, Blomhoff HK, Boada-Romero E, Böckler S, Boes M, Boesze-Battaglia K, Boise LH, Bolino A, Boman A, Bonaldo P, Bordi M, Bosch J, Botana LM, Botti J, Bou G, Bouché M, Bouchecareilh M, Boucher MJ, Boulton ME, Bouret SG, Boya P, Boyer-Guittaut M, Bozhkov PV, Brady N, Braga VM, Brancolini C, Braus GH, Bravo-San Pedro JM, Brennan LA, Bresnick EH, Brest P, Bridges D, Bringer MA, Brini M, Brito GC, Brodin B, Brookes PS, Brown EJ, Brown K, Broxmeyer HE, Bruhat A, Brum PC, Brumell JH, Brunetti-Pierri N, Bryson-Richardson RJ, Buch S, Buchan AM, Budak H, Bulavin DV, Bultman SJ, Bultynck G, Bumbasirevic V, Burelle Y, Burke RE, Burmeister M, Bütikofer P, Caberlotto L, Cadwell K, Cahova M, Cai D, Cai J, Cai Q, Calatayud S, Camougrand N, Campanella M, Campbell GR, Campbell M, Campello S, Candau R, Caniggia I, Cantoni L, Cao L, Caplan AB, Caraglia M, Cardinali C, Cardoso SM, Carew JS, Carleton LA, Carlin CR, Carloni S, Carlsson SR, Carmona-Gutierrez D, Carneiro LA, Carnevali O, Carra S, Carrier A, Carroll B, Casas C, Casas J, Cassinelli G, Castets P, Castro-Obregon S, Cavallini G, Ceccherini I, Cecconi F, Cederbaum AI, Ceña V, Cenci S, Cerella C, Cervia D, Cetrullo S, Chaachouay H, Chae HJ, Chagin AS, Chai CY, Chakrabarti G, Chamilos G, Chan EY, Chan MT, Chandra D, Chandra P, Chang CP, Chang RC, Chang TY, Chatham JC, Chatterjee S, Chauhan S, Che Y, Cheetham ME, Cheluvappa R, Chen CJ, Chen G, Chen GC, Chen G, Chen H, Chen JW, Chen JK, Chen M, Chen M, Chen P, Chen Q, Chen Q, Chen SD, Chen S, Chen SS, Chen W, Chen WJ, Chen WQ, Chen W, Chen X, Chen YH, Chen YG, Chen Y, Chen Y, Chen Y, Chen YJ, Chen YQ, Chen Y, Chen Z, Chen Z, Cheng A, Cheng CH, Cheng H, Cheong H, Cherry S, Chesney J, Cheung CH, Chevet E, Chi HC, Chi SG, Chiacchiera F, Chiang HL, Chiarelli R, Chiariello M, Chieppa M, Chin LS, Chiong M, Chiu GN, Cho DH, Cho SG, Cho WC, Cho YY, Cho YS, Choi AM, Choi EJ, Choi EK, Choi J, Choi ME, Choi SI, Chou TF, Chouaib S, Choubey D, Choubey V, Chow KC, Chowdhury K, Chu CT, Chuang TH, Chun T, Chung H, Chung T, Chung YL, Chwae YJ, Cianfanelli V, Ciarcia R, Ciechomska IA, Ciriolo MR, Cirone M, Claerhout S, Clague MJ, Clària J, Clarke PG, Clarke R, Clementi E, Cleyrat C, Cnop M, Coccia EM, Cocco T, Codogno P, Coers J, Cohen EE, Colecchia D, Coletto L, Coll NS, Colucci-Guyon E, Comincini S, Condello M, Cook KL, Coombs GH, Cooper CD, Cooper JM, Coppens I, Corasaniti MT, Corazzari M, Corbalan R, Corcelle-Termeau E, Cordero MD, Corral-Ramos C, Corti O, Cossarizza A, Costelli P, Costes S, Cotman SL, Coto-Montes A, Cottet S, Couve E, Covey LR, Cowart LA, Cox JS, Coxon FP, Coyne CB, Cragg MS, Craven RJ, Crepaldi T, Crespo JL, Criollo A, Crippa V, Cruz MT, Cuervo AM, Cuezva JM, Cui T, Cutillas PR, Czaja MJ, Czyzyk-Krzeska MF, Dagda RK, Dahmen U, Dai C, Dai W, Dai Y, Dalby KN, Dalla Valle L, Dalmasso G, D'Amelio M, Damme M, Darfeuille-Michaud A, Dargemont C, Darley-Usmar VM, Dasarathy S, Dasgupta B, Dash S, Dass CR, Davey HM, Davids LM, Dávila D, Davis RJ, Dawson TM, Dawson VL, Daza P, de Belleroche J, de Figueiredo P, de Figueiredo RC, de la Fuente J, De Martino L, De Matteis A, De Meyer GR, De Milito A, De Santi M, de Souza W, De Tata V, De Zio D, Debnath J, Dechant R, Decuypere JP, Deegan S, Dehay B, Del Bello B, Del Re DP, Delage-Mourroux R, Delbridge LM, Deldicque L, Delorme-Axford E, Deng Y, Dengjel J, Denizot M, Dent P, Der CJ, Deretic V, Derrien B, Deutsch E, Devarenne TP, Devenish RJ, Di Bartolomeo S, Di Daniele N, Di Domenico F, Di Nardo A, Di Paola S, Di Pietro A, Di Renzo L, DiAntonio A, Díaz-Araya G, Díaz-Laviada I, Diaz-Meco MT, Diaz-Nido J, Dickey CA, Dickson RC, Diederich M, Digard P, Dikic I, Dinesh-Kumar SP, Ding C, Ding WX, Ding Z, Dini L, Distler JH, Diwan A, Djavaheri-Mergny M, Dmytruk K, Dobson RC, Doetsch V, Dokladny K, Dokudovskaya S, Donadelli M, Dong XC, Dong X, Dong Z, Donohue TM Jr, Doran KS, D'Orazi G, Dorn GW 2nd, Dosenko V, Dridi S, Drucker L, Du J, Du LL, Du L, du Toit A, Dua P, Duan L, Duann P, Dubey VK, Duchen MR, Duchosal MA, Duez H, Dugail I, Dumit VI, Duncan MC, Dunlop EA, Dunn WA Jr, Dupont N, Dupuis L, Durán RV, Durcan TM, Duvezin-Caubet S, Duvvuri U, Eapen V, Ebrahimi-Fakhari D, Echard A, Eckhart L, Edelstein CL, Edinger AL, Eichinger L, Eisenberg T, Eisenberg-Lerner A, Eissa NT, El-Deiry WS, El-Khoury V, Elazar Z, Eldar-Finkelman H, Elliott CJ, Emanuele E, Emmenegger U, Engedal N, Engelbrecht AM, Engelender S, Enserink JM, Erdmann R, Erenpreisa J, Eri R, Eriksen JL, Erman A, Escalante R, Eskelinen EL, Espert L, Esteban-Martínez L, Evans TJ, Fabri M, Fabrias G, Fabrizi C, Facchiano A, Færgeman NJ, Faggioni A, Fairlie WD, Fan C, Fan D, Fan J, Fang S, Fanto M, Fanzani A, Farkas T, Faure M, Favier FB, Fearnhead H, Federici M, Fei E, Felizardo TC, Feng H, Feng Y, Feng Y, Ferguson TA, Fernández ÁF, Fernandez-Barrena MG, Fernandez-Checa JC, Fernández-López A, Fernandez-Zapico ME, Feron O, Ferraro E, Ferreira-Halder CV, Fesus L, Feuer R, Fiesel FC, Filippi-Chiela EC, Filomeni G, Fimia GM, Fingert JH, Finkbeiner S, Finkel T, Fiorito F, Fisher PB, Flajolet M, Flamigni F, Florey O, Florio S, Floto RA, Folini M, Follo C, Fon EA, Fornai F, Fortunato F, Fraldi A, Franco R, Francois A, François A, Frankel LB, Fraser ID, Frey N, Freyssenet DG, Frezza C, Friedman SL, Frigo DE, Fu D, Fuentes JM, Fueyo J, Fujitani Y, Fujiwara Y, Fujiya M, Fukuda M, Fulda S, Fusco C, Gabryel B, Gaestel M, Gailly P, Gajewska M, Galadari S, Galili G, Galindo I, Galindo MF, Galliciotti G, Galluzzi L, Galluzzi L, Galy V, Gammoh N, Gandy S, Ganesan AK, Ganesan S, Ganley IG, Gannagé M, Gao FB, Gao F, Gao JX, García Nannig L, García Véscovi E, Garcia-Macía M, Garcia-Ruiz C, Garg AD, Garg PK, Gargini R, Gassen NC, Gatica D, Gatti E, Gavard J, Gavathiotis E, Ge L, Ge P, Ge S, Gean PW, Gelmetti V, Genazzani AA, Geng J, Genschik P, Gerner L, Gestwicki JE, Gewirtz DA, Ghavami S, Ghigo E, Ghosh D, Giammarioli AM, Giampieri F, Giampietri C, Giatromanolaki A, Gibbings DJ, Gibellini L, Gibson SB, Ginet V, Giordano A, Giorgini F, Giovannetti E, Girardin SE, Gispert S, Giuliano S, Gladson CL, Glavic A, Gleave M, Godefroy N, Gogal RM Jr, Gokulan K, Goldman GH, Goletti D, Goligorsky MS, Gomes AV, Gomes LC, Gomez H, Gomez-Manzano C, Gómez-Sánchez R, Gonçalves DA, Goncu E, Gong Q, Gongora C, Gonzalez CB, Gonzalez-Alegre P, Gonzalez-Cabo P, González-Polo RA, Goping IS, Gorbea C, Gorbunov NV, Goring DR, Gorman AM, Gorski SM, Goruppi S, Goto-Yamada S, Gotor C, Gottlieb RA, Gozes I, Gozuacik D, Graba Y, Graef M, Granato GE, Grant GD, Grant S, Gravina GL, Green DR, Greenhough A, Greenwood MT, Grimaldi B, Gros F, Grose C, Groulx JF, Gruber F, Grumati P, Grune T, Guan JL, Guan KL, Guerra B, Guillen C, Gulshan K, Gunst J, Guo C, Guo L, Guo M, Guo W, Guo XG, Gust AA, Gustafsson ÅB, Gutierrez E, Gutierrez MG, Gwak HS, Haas A, Haber JE, Hadano S, Hagedorn M, Hahn DR, Halayko AJ, Hamacher-Brady A, Hamada K, Hamai A, Hamann A, Hamasaki M, Hamer I, Hamid Q, Hammond EM, Han F, Han W, Handa JT, Hanover JA, Hansen M, Harada M, Harhaji-Trajkovic L, Harper JW, Harrath AH, Harris AL, Harris J, Hasler U, Hasselblatt P, Hasui K, Hawley RG, Hawley TS, He C, He CY, He F, He G, He RR, He XH, He YW, He YY, Heath JK, Hébert MJ, Heinzen RA, Helgason GV, Hensel M, Henske EP, Her C, Herman PK, Hernández A, Hernandez C, Hernández-Tiedra S, Hetz C, Hiesinger PR, Higaki K, Hilfiker S, Hill BG, Hill JA, Hill WD, Hino K, Hofius D, Hofman P, Höglinger GU, Höhfeld J, Holz MK, Hong Y, Hood DA, Hoozemans JJ, Hoppe T, Hsu C, Hsu CY, Hsu LC, Hu D, Hu G, Hu HM, Hu H, Hu MC, Hu YC, Hu ZW, Hua F, Hua Y, Huang C, Huang HL, Huang KH, Huang KY, Huang S, Huang S, Huang WP, Huang YR, Huang Y, Huang Y, Huber TB, Huebbe P, Huh WK, Hulmi JJ, Hur GM, Hurley JH, Husak Z, Hussain SN, Hussain S, Hwang JJ, Hwang S, Hwang TI, Ichihara A, Imai Y, Imbriano C, Inomata M, Into T, Iovane V, Iovanna JL, Iozzo RV, Ip NY, Irazoqui JE, Iribarren P, Isaka Y, Isakovic AJ, Ischiropoulos H, Isenberg JS, Ishaq M, Ishida H, Ishii I, Ishmael JE, Isidoro C, Isobe K, Isono E, Issazadeh-Navikas S, Itahana K, 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37.

Polyglutamine-expanded androgen receptor interferes with TFEB to elicit autophagy defects in SBMA.

Cortes CJ, Miranda HC, Frankowski H, Batlevi Y, Young JE, Le A, Ivanov N, Sopher BL, Carromeu C, Muotri AR, Garden GA, La Spada AR.

Nat Neurosci. 2014 Sep;17(9):1180-9. doi: 10.1038/nn.3787. Epub 2014 Aug 10.

38.

Something wicked this way comes: huntingtin.

La Spada AR.

Nat Neurosci. 2014 Aug;17(8):1014-5. doi: 10.1038/nn.3770. No abstract available.

PMID:
25065434
39.

The SAGA histone deubiquitinase module controls yeast replicative lifespan via Sir2 interaction.

McCormick MA, Mason AG, Guyenet SJ, Dang W, Garza RM, Ting MK, Moller RM, Berger SL, Kaeberlein M, Pillus L, La Spada AR, Kennedy BK.

Cell Rep. 2014 Jul 24;8(2):477-86. doi: 10.1016/j.celrep.2014.06.037. Epub 2014 Jul 18.

40.

Nonallele specific silencing of ataxin-7 improves disease phenotypes in a mouse model of SCA7.

Ramachandran PS, Boudreau RL, Schaefer KA, La Spada AR, Davidson BL.

Mol Ther. 2014 Sep;22(9):1635-42. doi: 10.1038/mt.2014.108. Epub 2014 Jun 16.

41.

Endoplasmic reticulum stress in spinal and bulbar muscular atrophy: a potential target for therapy.

Montague K, Malik B, Gray AL, La Spada AR, Hanna MG, Szabadkai G, Greensmith L.

Brain. 2014 Jul;137(Pt 7):1894-906. doi: 10.1093/brain/awu114. Epub 2014 Jun 4.

42.

Peripheral androgen receptor gene suppression rescues disease in mouse models of spinal and bulbar muscular atrophy.

Lieberman AP, Yu Z, Murray S, Peralta R, Low A, Guo S, Yu XX, Cortes CJ, Bennett CF, Monia BP, La Spada AR, Hung G.

Cell Rep. 2014 May 8;7(3):774-84. doi: 10.1016/j.celrep.2014.02.008. Epub 2014 Apr 16.

43.

Muscle expression of mutant androgen receptor accounts for systemic and motor neuron disease phenotypes in spinal and bulbar muscular atrophy.

Cortes CJ, Ling SC, Guo LT, Hung G, Tsunemi T, Ly L, Tokunaga S, Lopez E, Sopher BL, Bennett CF, Shelton GD, Cleveland DW, La Spada AR.

Neuron. 2014 Apr 16;82(2):295-307. doi: 10.1016/j.neuron.2014.03.001.

44.

The many faces of autophagy dysfunction in Huntington's disease: from mechanism to therapy.

Cortes CJ, La Spada AR.

Drug Discov Today. 2014 Jul;19(7):963-71. doi: 10.1016/j.drudis.2014.02.014. Epub 2014 Mar 13. Review.

45.
46.

Protein interaction analysis of senataxin and the ALS4 L389S mutant yields insights into senataxin post-translational modification and uncovers mutant-specific binding with a brain cytoplasmic RNA-encoded peptide.

Bennett CL, Chen Y, Vignali M, Lo RS, Mason AG, Unal A, Huq Saifee NP, Fields S, La Spada AR.

PLoS One. 2013 Nov 11;8(11):e78837. doi: 10.1371/journal.pone.0078837. eCollection 2013.

47.

Expression levels of DNA replication and repair genes predict regional somatic repeat instability in the brain but are not altered by polyglutamine disease protein expression or age.

Mason AG, Tomé S, Simard JP, Libby RT, Bammler TK, Beyer RP, Morton AJ, Pearson CE, La Spada AR.

Hum Mol Genet. 2014 Mar 15;23(6):1606-18. doi: 10.1093/hmg/ddt551. Epub 2013 Nov 3.

48.

Dual effects of β-synuclein on the pathogenesis of Parkinson disease.

Sekigawa A, Sekiyama K, Fujita M, Takamatsu Y, La Spada AR, Masliah E, Hashimoto M.

Ann Neurol. 2013 Aug;74(2):306. doi: 10.1002/ana.23936. Epub 2013 Jul 8. No abstract available.

PMID:
23836414
49.

A functional deficiency of TERA/VCP/p97 contributes to impaired DNA repair in multiple polyglutamine diseases.

Fujita K, Nakamura Y, Oka T, Ito H, Tamura T, Tagawa K, Sasabe T, Katsuta A, Motoki K, Shiwaku H, Sone M, Yoshida C, Katsuno M, Eishi Y, Murata M, Taylor JP, Wanker EE, Kono K, Tashiro S, Sobue G, La Spada AR, Okazawa H.

Nat Commun. 2013;4:1816. doi: 10.1038/ncomms2828.

50.

S-nitrosylation of dynamin-related protein 1 mediates mutant huntingtin-induced mitochondrial fragmentation and neuronal injury in Huntington's disease.

Haun F, Nakamura T, Shiu AD, Cho DH, Tsunemi T, Holland EA, La Spada AR, Lipton SA.

Antioxid Redox Signal. 2013 Oct 10;19(11):1173-84. doi: 10.1089/ars.2012.4928. Epub 2013 Jun 20.

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