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Department of Pediatrics
La Spada Laboratory
LaSpada Laboratory
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 Selected Publications 

Selected Publications (out of >115)


1)         La Spada AR, Wilson EM, Lubahn DB, Harding AE, Fischbeck KH. (1991).   Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy.  Nature  352:  77-79

2)         La Spada AR, Roling D, Harding AE, Warner CL, Spiegel R, Hausmanowa-Petrusewicz I, Yee WC, Fischbeck KH.  (1992).  Meiotic instability and genotype-phenotype correlation of the trinucleotide repeat in X-linked spinal and bulbar muscular atrophy.
Nature Genetics  2: 301-304

3)         La Spada AR, Skålhegg BS, Henderson R, Schmer G, Pierce R, Chandler W.  (1995). Brief report:  Fatal hemorrhage in a patient with an acquired inhibitor to thrombin. 
New England Journal of Medicine  333: 494-497

4)         La Spada AR, Peterson KR, Meadows SA, McClain ME, Jeng G, Chmellar R, Haugen HA, Chen K, Moore D, Fischbeck KH, Clegg CH, McKnight GS. (1998).  Androgen receptor YAC transgenic mice carrying CAG 45 alleles show trinucleotide repeat instability. Human Molecular Gentics 7: 959-968

5)         La Spada AR, Fu Y-H, Sopher BL, Libby RA, Wang X, Li LY, Einum DD, Huang J, Possin D, Smith AC, Martinez RA, Koszdin KL, Treuting PM, Ware CB, Hurley JB, Ptacek LJ, Chen S.  (2001).  Polyglutamine-expanded ataxin-7 antagonizes CRX function and induces cone-rod dystrophy in a mouse model of SCA7.
Neuron 31:  913-927         (Cover story)

6)         La Spada AR^, Fernandez-Gonzalez A^, Treadaway J, Higdon JC, Harris BS, Sidman RL, Morgan JI, Zuo J.  (2002).  Purkinje cell degeneration (pcd) mouse phenotypes caused by mutations in the axotomy-induced gene, Nna1. Science  295: 1904-1906
[^ = co-first authors]

7)         Garden GA, Libby RT, Fu Y-H, Kinoshita Y, Huang J, Possin DE, Smith AC, Martinez RA, Fine GC, Grote SK, Ware CB, Einum DD, Morrison RS, Ptacek LJ, Sopher BL, La Spada AR.  (2002).  Polyglutamine-expanded ataxin-7 promotes non-cell autonomous Purkinje cell degeneration and displays proteolytic cleavage in ataxic transgenic mice.   Journal of  Neuroscience  22:  4897-4905
(Cover story)

8)         Libby RT, Monckton DG, Fu Y-H, Martinez RA, McAbney JP, Lau R, Einum DD, Nichol K, Ware CB, Ptacek LJ, Pearson CE, La Spada AR.  (2003). Genomic Context Drives CAG Repeat Instability, while Expressed SCA7 cDNAs are Intergenerationally and Somatically Stable in Transgenic Mice.  Human Molecular Genetics  12:  41-50

9)         Feany MB & La Spada AR.  (2003).  Polyglutamines stop traffic – axonal transport as a common target in neurodegenerative diseases. Neuron 40: 1-2

10)       Chen S, Peng G-H, Wang X, Smith AC, Grote SK, Sopher BL & La Spada AR.  (2004). Interference of CRX-dependent transcription by ataxin-7 involves interaction between the glutamine regions and requires the ataxin-7 carboxy-terminal region for nuclear localization.  Human Molecular Genetics  13: 53-67  (Cover story)

11)       Sopher BL, Thomas PS, LaFevre-Bernt MA, Holm IE, Wilke SA, Ware CB, Jin LW, Libby RT, Ellerby LM & La Spada AR.  (2004). Androgen Receptor YAC transgenic mice recapitulate SBMA motor neuronopathy and implicate VEGF expression alteration in SBMA motor neuron degeneration.  Neuron 41: 687-699

12)       Ohtake H*, Limprasert P*, Fan Y, Onodera O, Kakita A, Takahashi H, Bonner LT, Tsuang DW, Murray IVJ, Lee VM-Y, Trojanowski JQ, Ishikawa A, Idezuka J, Murata M, Toda T, Bird TD, Leverenz JB, Tsuji S & La Spada AR.  (2004). Beta-synuclein gene alterations in Dementia with Lewy Bodies.   Neurology  63: 805-811      [subject of Commentary]

13)       Bonini NM & La Spada AR.  (2005). Silencing degeneration: Application of RNAi therapy to polyglutamine disease.  Neuron 48: 715-718

14)       Palhan VB, Chen S, Peng G, Tjernberg A, Chait BT, Gamper AM, Fan Y, La Spada AR^ & Roeder RG^.  (2005). Polyglutamine-expanded ataxin-7 inhibits STAGA histone acetyltransferase activity to produce retinal degeneration in a dominant negative manner.   PNAS 102: 8472-8477
[^ co-corresponding authors]

15)       Chakrabarti L, Martinez RA, Neal JT, Miles M, Huang J, Possin DE, Smith AC, Sopher BL & La Spada AR.  (2006). The purkinje cell degeneration 5J allele mutation is a single amino acid insertion that destabilizes the Nna1 protein.  Mammalian Genome  17: 103-110     (Cover story)

16)       Sopher BL & La Spada AR.  (2006).  Efficient recombination-based methods for bacterial artificial chromosome fusion and mutagenesis.    Gene  371: 136-143

17)       Taylor J, Grote SK, Xia J, Vandelft M, Graczyk J, Ellerby LM, La Spada AR & Truant R. (2006).  Ataxin-7 nuclear export inhibition by direct cleavage of the ataxin-7 NES.    Journal of Biological Chemistry  281: 2730-2739    (Cover story)

18)       Thomas PS, Fraley GS, Damian V, Holm IE, Woodke LB, Zapata F, Sopher BL, Plymate SR & La Spada AR.  (2006). Loss of endogenous androgen receptor protein accelerates motor neuron degeneration and accentuates androgen insensitivity in a mouse model of X-linked spinal and bulbar muscular atrophy. Human Molecular Genetics  15: 2225-2228       (Cover story)

19)       Custer SK, Garden GA, Gill N, Rueb U, Libby RT, Schultz C, Guyenet SJ, Deller T, Westrum LE, Sopher BL & La Spada AR.  (2006). Bergmann glia expression of polyglutamine-expanded ataxin-7 produces Purkinje cell degeneration and implicates glial-induced impairment of glutamate transport in SCA7. 

                  Nature Neuroscience  9: 1302-1311   (Cover feature)

20)       Fan Y, Limprasert P, Murray IV, Smith AC, Lee VM, Trojanowski JQ, Sopher BL & La Spada AR.  (2006). b-synuclein ameliorates a-synuclein neurotoxicity by reducing a-synuclein protein expression.  Human Molecular Genetics 15: 3002-3011

21)       La Spada AR.  (2006). Neurodegeneration by virtue of arrested development?  Cell  127: 669-671

22)       Weydt P*, Pineda VV*, Torrence AE, Libby RT, Satterfield TF, Lazarowski ER, Gilbert ML, Morton GJ, Bammler TK, Strand AD, Cui L, Beyer RP, Easley CN, Smith AC, Krainc D, Luquet SF, Sweet IR, Schwartz MW & La Spada AR.  (2006). Thermoregulatory and metabolic defects in Huntington’s disease transgenic mice implicate PGC-1a transcription interference in Huntington’s disease neurodegeneration.  Cell Metabolism  4: 349-362 (Cover story)

23)       Young JE, Gouw L, Propp S, Lin A, Hermel E, Logvinova A, Chen SF, Bredesen DE, Sopher BL, Chen S, Ptacek LJ, Truant R, Fu Y-H, La Spada AR & Ellerby LM.  (2007). Proteolytic cleavage of ataxin-7 by caspase-7 modulates cellular toxicity and transcriptional dysregulation.
Journal of Biological Chemistry 282: 30150-30160

24)       Chakrabarti L, Eng J, Martinez RA, Jackson S, Huang J, Possin DE, Sopher BL & La Spada AR.  (2008). The zinc-binding domain of Nna1 is required to prevent retinal photoreceptor loss and cerebellar ataxia in Purkinje cell degeneration (pcd) mice.  Vision Research  48: 1999-2005

25)       Garden GA & La Spada AR.  (2008).  Molecular pathogenesis and cellular pathology of spinocerebellar ataxia type 7 neurodegeneration.  The Cerebellum  7: 138-149

26)       Libby RT, Hagerman K, Pineda VV, Lau R, Cho DH, Cleary JD, Baccam S, Moore JM, Sopher BL, Tapscott SJ, Filippova GN, Pearson CE & La Spada AR.  (2008). CTCF binding cis-regulates trinucleotide repeat instability in an epigenetic manner:  a novel basis for mutational hot spot determination.  PLoS Genetics  4: e1000257

27)       Young JE, Martinez RA & La Spada AR.  (2009). Nutrient deprivation induces neuronal autophagy, and implicates reduced insulin signaling in neuroprotective autophagy activation. 

                  Journal of Biological Chemistry 284: 2363-2373                (Cover story) 

28)       Young JE, Garden GA, Taylor JP, Martinez RA, Tanaka F, Sandoval CM, Smith AC, Sopher BL, Ellerby LM, Morrison RS, Fischbeck KH & La Spada AR.  (2009). Polyglutamine-expanded androgen receptor activates a Bax-dependent neuronal apoptotic cascade mediated by DP5/Hrk.  Journal of Neuroscience 29: 1987-1997

29)       La Spada AR.  (2009).  Getting a handle on Huntington’s disease: silencing neurodegeneration.    Nature Medicine 15: 252-253

30)       Young JE & La Spada AR.  (2009).  Development of selective nutrient deprivation as a system to study autophagy induction and regulation in neurons.  Autophagy 5: 555-557

31)       Chakrabarti L, Eng J, Gill N, Garden GA & La Spada AR.  (2009).  Autophagy activation and enhanced mitophagy characterize the Purkinje cells of pcd mice prior to neuronal death.  Molecular Brain 2: 24

32)       Ravits JM & La Spada AR.  (2009). Phenotype heterogeneity, focality, and spread in ALS: Deconstructing motor neuron degeneration.  Neurology 73: 805-811

33)       Mookerjee S, Sampath V, Guyenet SJ, Lin A, Vitelli C, Sopher BL, Chen S, La Spada AR & Ellerby LM.  (2009).  Lysine-257 controls turnover of the N-terminal caspase-7 cleavage product of ataxin-7 by autophagy.   Journal of Neuroscience 29: 15134-15144

34)       Rabin SJ, Mun J, Kim H, Baughn M, Libby RT, Kim YJ, Fan Y, Libby RT, La Spada AR, Stone B & Ravits J.  (2010).  Sporadic ALS has compartment-specific aberrant exon splicing and altered cell-matrix adhesion biology.   Human Molecular Genetics 19: 313-328

35)       Guyenet SJ, Furrer SA, Damian V, Baughan TD, La Spada AR & Garden GA.  (2010).  A simple composite phenotype scoring system for evaluating mouse models of cerebellar ataxia.   Journal of Visualized Experiments   May 21;(39).  pii: 1787

36)       La Spada AR & Taylor JP.  (2010).  Repeat expansion disease: Progress and puzzles in disease pathogenesis.   Nature Reviews Genetics 11: 247-258

37)       Chakrabarti L, Zahra R, Jackson SM, Kazemi-Esfarjani P, Sopher BL, Mason AG, Toneff T, Ryu S, Shaffer S, Kansy JW, Eng J, Merrihew G, MacCoss MJ, Murphy A, Goodlett DR, Hook V, Bennett CL, Pallanck LJ & La Spada AR.  (2010).  Mitochondrial dysfunction in NnaD mutant flies and Purkinje cell degeneration (pcd) mice reveals a role for Nna proteins in neuronal bioenergetics.  Neuron  66: 835-845


38)       Wilburn B, Rudnicki DD, Zhao J, Sopher BL, Osmand A, La Spada AR, Margolis RL, Sun YE & Yang XW.  (2011).  Bidirectional CUG/CAG transcripts and toxic polyglutamine-mediated CBP transcriptional dysregulation in Huntington’s Disease Like-2 (HDL-2) mice.   Neuron 70: 427-440

39)       Sopher BL, Ladd PD, Pineda VV, Libby RT, Sunkin SM, Hurley JB, Thienes CP, Gaasterland T, Filippova GN & La Spada AR.  (2011).  CTCF regulates ataxin-7 expression through promotion of a convergently transcribed, antisense non-coding RNA.   Neuron 70: 1071-1084
(Lead article; selected for VIDEO ABSTRACT)

40)       Furrer SA, Mohanachandan MS, Waldherr SM, Chang C, Damian VA, Sopher BL, Garden GA & La Spada AR.  (2011).  Spinocerebellar ataxia type 7 cerebellar disease requires the coordinated action of mutant ataxin-7 in neurons and glia, and displays non-cell-autonomous Bergmann glia degeneration.  Journal of Neuroscience 31: 16269-16278       (Cover story)

41)       Nakamura Y, Tagawa K, Oka T, Sasabe T, Ito H, Shiwaku H, La Spada AR & Okazawa H.  (2012). Ataxin-7 associates with microtubules and stabilizes the cytoskeletal network. 

                  Human Molecular Genetics 21: 1099-1110


42)       Hashimoto M & La Spada AR.  (2012).  b-synuclein in the pathogenesis of Parkinson’s disease and related a-synucleinopathies: Emerging roles and new directions.  Future Neurology  7: 155-163

43)       La Spada AR & Garden GA.  (2012).  Intercellular (mis)communication in neurodegenerative disease.  Neuron  73: 886-901

44)       Tsunemi T, Soriano KR, Morrison BE, Au J, Vázquez Roque RA, Lazarowski ER, Damian VA, Masliah E & La Spada AR.  (2012). PGC-1a rescues Huntington’s disease by preventing oxidative stress and promoting TFEB function.   Science Translational Medicine  4: 142ra97

                  (Selected by DISCOVER magazine as one of the top 100 scientific advances for 2012.)


45)       Klionsky DJ…La Spada AR...Zuckerbraun B.  (2012).  Guidelines for the use and interpretation of assays for monitoring autophagy.   Autophagy 8: 445-544


46)       Malik B, Nirmalanthan N, Gray A, La Spada AR, Hanna MG & Greensmith L.  (2013). Co-induction of the heat shock response ameliorates disease in a mouse model of spinal bulbar muscular atrophy: implications for therapy.  Brain 136: 926-943


47)       Furrer SA, Waldherr SM, Mohanachandan MS, Baughn TD, Nguyen KT, Sopher BL, Damian VA, Garden GA & La Spada AR.  (2013). Reduction of mutant ataxin-7 expression restores motor function and prevents cerebellar synaptic reorganization in a conditional mouse model of SCA7. 

                  Human Molecular Genetics 22:  890-903


48)       Bennett CL, Chen Y, Vignali M, Lo RS, Mason AG, Unal A, Huq-Saifee NP, Fields S & La Spada AR.  (2013).  Protein interaction analysis of senataxin and the ALS4 L389S senataxin mutant yields insights into senataxin post-translational modification and uncovers mutant-specific binding with a brain cytoplasmic RNA-encoded peptide.  PLoS One 11;8(11):e78837


49)       Mason AG, Tome S, Smard J, Libby RT, Bammler TK, Beyer RP, Morton AJ, Pearson CE & La Spada AR.  (2014).  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.  

                  Human Molecular Genetics 23: 1606-1618            (Cover Story)

50)       Cortes CJ, Ling S-C, Guo LT, Hung G, Tsunemi T, Ly L, Lopez E, Sopher BL, Bennett CF, Shelton GD, Cleveland DW & La Spada AR.  (2014).  Muscle expression of mutant androgen receptor accounts for systemic and motor neuron disease phenotypes in Spinal & Bulbar Muscular Atrophy. 

                  Neuron 82: 295-307


51)       Lieberman AP, Yu Z, Murray S, Peralta R, Low A, Guo S, Cortes CJ, Bennett FC, Monia B, La Spada AR & Hung G. (2014).  Peripheral androgen receptor gene suppression rescues disease in mouse models of Spinal and Bulbar Muscular Atrophy.  Cell Reports 7: 1-11


52)       Ramachandran PS, Boudreau RL, Schaefer KA, La Spada AR & Davidson BL.  (2014).  Non-allele specific silencing of ataxin-7 improves phenotypes in a mouse model of Spinocerebellar ataxia type 7.

                  Molecular Therapy 22: 1635-1642


53)       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*.  (2014). The SAGA histone deubiquitinase modules controls yeast replicative lifespan via interaction with Sir2.  Cell Reports 8: 477-486   

                    *Co-corresponding authors

54)       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.  (2014). Polyglutamine-expanded androgen receptor interferes with TFEB to elicit autophagy defects in SBMA.  Nature Neuroscience 17: 1180-1189

55)       Dubinsky AN, Dastidar SG, Zahra R, Hsu CL, Djakovic S, Esau CC, Spencer B, Ashe TD, Fischer KM, MacKenna DA, Sopher BL, Masliah E, Gaasterland T, Chau NB, Morrison BE & La Spada AR.  (2014). Let-7 coordinately suppresses components of the amino acid sensing pathway to induce autophagy.  Cell Metabolism 20: 626-638


56)       Eschbach J, Muller K, Bayer H, von Einem B, Scheffold A, Morrison BE, Rudolph KL, Thal D, Witting A, Weydt P, Depboylou C, McLean PJ, La Spada AR, Weishaupt JH, Ludolph AC & Danzer K.  (2015).  Mutual exacerbation of PGC-1-alpha deregulation and alpha-synuclein oligomerization.   Annals of Neurology 77: 15-32


57)       Guyenet SJ, Mookerjee SS, Lin A, Custer SK, Chen SF, Sopher BL, La Spada AR* & Ellerby LM.  (2015).  Proteolytic cleavage of ataxin-7 promotes SCA7 retinal degeneration and neurological dysfunction.  Human Molecular Genetics 24: 3908-3917 *Co-corresponding authors


58)       Tsai S, Sitzmann JM, Dastidar SG, Rodriguez AA, Vu SL, McDonald CE, Academia EC, O’Leary MN, Ashe TD, La Spada AR* & Kennedy BK*. (2015).  Activated muscle 4E-BP1 signaling improves metabolic parameters in age- and obesity-induced metabolic deregulation. Journal of Clinical Investigation 125: 2952-2964        *Co-corresponding authors


59)       Todd TW, Kokubu H, Miranda HC, Cortes CJ, La Spada AR & Lim J.  (2015). Nemo-like kinase is a novel regulator of spinal and bulbar muscular atrophy.  eLIFE 4:e08493


60)       Dickey AS, Pineda VV, Tsunemi T, Liu PP, Miranda HC, Gilmore-Hall SK, Lomas N, Sampat KR, Buttgereit A, Manalang-Torres MJ, Flores AL, Arreola M, Arbez N, Akimov S, Gaasterland T, Lazarowski ER, Ross CA, Yeo E, Sopher BL, Magnuson GK, Pinkerton AB, Masliah E & La Spada AR.  (2016). PPARδ repression in Huntington’s disease and its essential role in CNS translates into a potent agonist therapy for neurodegenerative disease. Nature Medicine 22: 37-45            (Cover Story)