Melissa J Spencer
Professor, Neurology, University of California Los Angeles
mspencer@mednet.ucla.edu
310-794-5225
Office Address:
635 Charles Young Dr. So
mail code 703422
Los Angeles, CA 90095
Fax Number:
310-206-1998
Work Address:
635 Charles E. Young Dr. So
mail code 733422
Los Angeles, CA 90095
Lab Number:
(310) 267-4582
Publications
- Mohan S, McNulty S, Thaxton C, Elnagheeb M, Owens E, Flowers M, Nunnery T, Self A, Palus B, Gorokhova S, Kennedy A, Niu Z, Johari M, Maiga AB, Macalalad K, Clause AR, Beckmann JS, Bronicki L, Cooper ST, Ganesh VS, Kang PB, Kesari A, Lek M, Levy J, Rufibach L, Savarese M, Spencer MJ, Straub V, Tasca G, Weihl CC. Expert panel curation of 31 genes in relation to limb girdle muscular dystrophy.. Annals of clinical and translational neurology, 2024.
- Mohan S, McNulty S, Thaxton C, Elnagheeb M, Owens E, Flowers M, Nunnery T, Self A, Palus B, Gorokhova S, Kennedy A, Niu Z, Johari M, Maiga AB, Macalalad K, Clause AR, Beckmann JS, Bronicki L, Cooper ST, Ganesh VS, Kang PB, Kesari A, Lek M, Levy J, Rufibach L, Savarese M, Spencer MJ, Straub V, Tasca G, Weihl CC. Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular Dystrophy.. bioRxiv : the preprint server for biology, 2024.
- O'Brien JG, Willis AB, Long AM, Kwon J, Lee G, Li FW, Page PG, Vo AH, Hadhazy M, Spencer MJ, Crosbie RH, Demonbreun AR, McNally EM. The super-healing MRL strain promotes muscle growth in muscular dystrophy through a regenerative extracellular matrix.. JCI insight, 2024.
- Kohn DB, Chen YY, Spencer MJ. Successes and challenges in clinical gene therapy.. Gene therapy, 2023.
- Hicks MR, Liu X, Young CS, Saleh K, Ji Y, Jiang J, Emami MR, Mokhonova E, Spencer MJ, Meng H, Pyle AD. Nanoparticles systemically biodistribute to regenerating skeletal muscle in DMD.. Journal of nanobiotechnology, 2023.
- Coulis G, Jaime D, Guerrero-Juarez C, Kastenschmidt JM, Farahat PK, Nguyen Q, Pervolarakis N, McLinden K, Thurlow L, Movahedi S, Hughes BS, Duarte J, Sorn A, Montoya E, Mozaffar I, Dragan M, Othy S, Joshi T, Hans CP, Kimonis V, MacLean AL, Nie Q, Wallace LM, Harper SQ, Mozaffar T, Hogarth MW, Bhattacharya S, Jaiswal JK, Golann DR, Su Q, Kessenbrock K, Stec M, Spencer MJ, Zamudio JR, Villalta SA. Single-cell and spatial transcriptomics identify a macrophage population associated with skeletal muscle fibrosis.. Science advances, 2023.
- Emami MR, Espinoza A, Young CS, Ma F, Farahat PK, Felgner PL, Chamberlain JS, Xu X, Pyle AD, Pellegrini M, Villalta SA, Spencer MJ. Innate and adaptive AAV-mediated immune responses in a mouse model of Duchenne muscular dystrophy.. Molecular therapy. Methods & clinical development, 2023.
- Coulis G, Jaime D, Guerrero-Juarez C, Kastenschmidt JM, Farahat PK, Nguyen Q, Pervolarakis N, McLinden K, Thurlow L, Movahedi S, Duarte J, Sorn A, Montoya E, Mozaffar I, Dragan M, Othy S, Joshi T, Hans CP, Kimonis V, MacLean AL, Nie Q, Wallace LM, Harper SQ, Mozaffar T, Hogarth MW, Bhattacharya S, Jaiswal JK, Golann DR, Su Q, Kessenbrock K, Stec M, Spencer MJ, Zamudio JR, Villalta SA. Single-cell and spatial transcriptomics identify a macrophage population associated with skeletal muscle fibrosis.. bioRxiv : the preprint server for biology, 2023.
- Ligon JA, Sundby RT, Wedekind MF, Arnaldez FI, Del Rivero J, Wiener L, Srinivasan R, Spencer M, Carbonell A, Lei H, Shern J, Steinberg SM, Figg WD, Peer CJ, Zimmerman S, Moraly J, Xu X, Fox S, Chan K, Barbato MI, Andresson T, Taylor N, Pacak K, Killian JK, Dombi E, Linehan WM, Miettinen M, Piekarz R, Helman LJ, Meltzer P, Widemann B, Glod J. A Phase II Trial of Guadecitabine in Children and Adults with SDH-Deficient GIST, Pheochromocytoma, Paraganglioma, and HLRCC-Associated Renal Cell Carcinoma.. Clinical cancer research : an official journal of the American Association for Cancer Research, 2023.
- Saleh KK, Xi H, Switzler C, Skuratovsky E, Romero MA, Chien P, Gibbs D, Gane L, Hicks MR, Spencer MJ, Pyle AD. Single cell sequencing maps skeletal muscle cellular diversity as disease severity increases in dystrophic mouse models.. iScience, 2022.
- Dowling JJ, Weihl CC, Spencer MJ. Molecular and cellular basis of genetically inherited skeletal muscle disorders.. Nature reviews. Molecular cell biology, 2021.
- Liu J, Campagna J, John V, Damoiseaux R, Mokhonova E, Becerra D, Meng H, McNally EM, Pyle AD, Kramerova I, Spencer MJ. A Small-Molecule Approach to Restore a Slow-Oxidative Phenotype and Defective CaMKIIβ Signaling in Limb Girdle Muscular Dystrophy.. Cell reports. Medicine, 2020.
- Sengupta K, Mishra MK, Loro E, Spencer MJ, Pyle AD, Khurana TS. Genome Editing-Mediated Utrophin Upregulation in Duchenne Muscular Dystrophy Stem Cells.. Molecular therapy. Nucleic acids, 2020.
- Kramerova I, Marinov M, Owens J, Lee SJ, Becerra D, Spencer MJ. Myostatin inhibition promotes fast fibre hypertrophy but causes loss of AMP-activated protein kinase signalling and poor exercise tolerance in a model of limb-girdle muscular dystrophy R1/2A.. The Journal of physiology, 2020.
- Xi H, Langerman J, Sabri S, Chien P, Young CS, Younesi S, Hicks M, Gonzalez K, Fujiwara W, Marzi J, Liebscher S, Spencer M, Van Handel B, Evseenko D, Schenke-Layland K, Plath K, Pyle AD. A Human Skeletal Muscle Atlas Identifies the Trajectories of Stem and Progenitor Cells across Development and from Human Pluripotent Stem Cells.. Cell stem cell, 2020.
- Xi H, Langerman J, Sabri S, Chien P, Young CS, Younesi S, Hicks M, Gonzalez K, Fujiwara W, Marzi J, Liebscher S, Spencer M, Van Handel B, Evseenko D, Schenke-Layland K, Plath K, Pyle AD. A Human Skeletal Muscle Atlas Identifies the Trajectories of Stem and Progenitor Cells across Development and from Human Pluripotent Stem Cells.. Cell stem cell, 2020.
- Kramerova I, Kumagai-Cresse C, Ermolova N, Mokhonova E, Marinov M, Capote J, Becerra D, Quattrocelli M, Crosbie RH, Welch E, McNally EM, Spencer MJ. Spp1 (osteopontin) promotes TGFβ processing in fibroblasts of dystrophin-deficient muscles through matrix metalloproteinases.. Human molecular genetics, 2019.
- Young CS, Pyle AD, Spencer MJ. CRISPR for Neuromuscular Disorders: Gene Editing and Beyond.. Physiology (Bethesda, Md.), 2019.
- Malik R, Meng H, Wongkongkathep P, Corrales CI, Sepanj N, Atlasi RS, Klärner FG, Schrader T, Spencer MJ, Loo JA, Wiedau M, Bitan G. The molecular tweezer CLR01 inhibits aberrant superoxide dismutase 1 (SOD1) self-assembly in vitro and in the G93A-SOD1 mouse model of ALS.. The Journal of biological chemistry, 2019.
- Ji Y, Liu X, Huang M, Jiang J, Liao YP, Liu Q, Chang CH, Liao H, Lu J, Wang X, Spencer MJ, Meng H. Development of self-assembled multi-arm polyrotaxanes nanocarriers for systemic plasmid delivery in vivo.. Biomaterials, 2018.
- Kramerova I, Torres JA, Eskin A, Nelson SF, Spencer MJ. Calpain 3 and CaMKIIβ signaling are required to induce HSP70 necessary for adaptive muscle growth after atrophy.. Human molecular genetics, 2018.
- Wang DW, Mokhonova EI, Kendall GC, Becerra D, Naeini YB, Cantor RM, Spencer MJ, Nelson SF, Miceli MC. Repurposing Dantrolene for Long-Term Combination Therapy to Potentiate Antisense-Mediated DMD Exon Skipping in the mdx Mouse.. Molecular therapy. Nucleic acids, 2018.
- Gordish-Dressman H, Willmann R, Dalle Pazze L, Kreibich A, van Putten M, Heydemann A, Bogdanik L, Lutz C, Davies K, Demonbreun AR, Duan D, Elsey D, Fukada SI, Girgenrath M, Patrick Gonzalez J, Grounds MD, Nichols A, Partridge T, Passini M, Sanarica F, Schnell FJ, Wells DJ, Yokota T, Young CS, Zhong Z, Spurney C, Spencer M, De Luca A, Nagaraju K, Aartsma-Rus A. "Of Mice and Measures": A Project to Improve How We Advance Duchenne Muscular Dystrophy Therapies to the Clinic.. Journal of neuromuscular diseases, 2018.
- Hicks MR, Hiserodt J, Paras K, Fujiwara W, Eskin A, Jan M, Xi H, Young CS, Evseenko D, Nelson SF, Spencer MJ, Handel BV, Pyle AD. ERBB3 and NGFR mark a distinct skeletal muscle progenitor cell in human development and hPSCs.. Nature cell biology, 2017.
- Quattrocelli M, Capote J, Ohiri JC, Warner JL, Vo AH, Earley JU, Hadhazy M, Demonbreun AR, Spencer MJ, McNally EM. Genetic modifiers of muscular dystrophy act on sarcolemmal resealing and recovery from injury.. PLoS genetics, 2017.
- Yao J, Guihard PJ, Wu X, Blazquez-Medela AM, Spencer MJ, Jumabay M, Tontonoz P, Fogelman AM, Boström KI, Yao Y. Vascular endothelium plays a key role in directing pulmonary epithelial cell differentiation.. The Journal of cell biology, 2017.
- Young CS, Mokhonova E, Quinonez M, Pyle AD, Spencer MJ. Creation of a Novel Humanized Dystrophic Mouse Model of Duchenne Muscular Dystrophy and Application of a CRISPR/Cas9 Gene Editing Therapy.. Journal of neuromuscular diseases, 2017.
- Quattrocelli M, Spencer MJ, McNally EM. Outside in: The matrix as a modifier of muscular dystrophy.. Biochimica et biophysica acta. Molecular cell research, 2016.
- Gibbs EM, Marshall JL, Ma E, Nguyen TM, Hong G, Lam JS, Spencer MJ, Crosbie-Watson RH. High levels of sarcospan are well tolerated and act as a sarcolemmal stabilizer to address skeletal muscle and pulmonary dysfunction in DMD.. Human molecular genetics, 2016.
- Capote J, Kramerova I, Martinez L, Vetrone S, Barton ER, Sweeney HL, Miceli MC, Spencer MJ. Osteopontin ablation ameliorates muscular dystrophy by shifting macrophages to a pro-regenerative phenotype.. The Journal of cell biology, 2016.
- Kramerova I, Ermolova N, Eskin A, Hevener A, Quehenberger O, Armando AM, Haller R, Romain N, Nelson SF, Spencer MJ. Failure to up-regulate transcription of genes necessary for muscle adaptation underlies limb girdle muscular dystrophy 2A (calpainopathy).. Human molecular genetics, 2016.
- DiFranco M, Kramerova I, Vergara JL, Spencer MJ. Attenuated Ca(2+) release in a mouse model of limb girdle muscular dystrophy 2A.. Skeletal muscle, 2016.
- Young CS, Hicks MR, Ermolova NV, Nakano H, Jan M, Younesi S, Karumbayaram S, Kumagai-Cresse C, Wang D, Zack JA, Kohn DB, Nakano A, Nelson SF, Miceli MC, Spencer MJ, Pyle AD. A Single CRISPR-Cas9 Deletion Strategy that Targets the Majority of DMD Patients Restores Dystrophin Function in hiPSC-Derived Muscle Cells.. Cell stem cell, 2016.
- Martinez L, Ermolova NV, Ishikawa TO, Stout DB, Herschman HR, Spencer MJ. A reporter mouse for optical imaging of inflammation in mdx muscles.. Skeletal muscle, 2015.
- Mokhonova EI, Avliyakulov NK, Kramerova I, Kudryashova E, Haykinson MJ, Spencer MJ. The E3 ubiquitin ligase TRIM32 regulates myoblast proliferation by controlling turnover of NDRG2.. Human molecular genetics, 2015.
- Ermolova N, Kramerova I, Spencer MJ. Autolytic activation of calpain 3 proteinase is facilitated by calmodulin protein.. The Journal of biological chemistry, 2014.
- Villalta SA, Rosenthal W, Martinez L, Kaur A, Sparwasser T, Tidball JG, Margeta M, Spencer MJ, Bluestone JA. Regulatory T cells suppress muscle inflammation and injury in muscular dystrophy.. Science translational medicine, 2014.
- Kendall GC, Mokhonova EI, Moran M, Sejbuk NE, Wang DW, Silva O, Wang RT, Martinez L, Lu QL, Damoiseaux R, Spencer MJ, Nelson SF, Miceli MC. Dantrolene enhances antisense-mediated exon skipping in human and mouse models of Duchenne muscular dystrophy.. Science translational medicine, 2012.
- Chao LC, Wroblewski K, Ilkayeva OR, Stevens RD, Bain J, Meyer GA, Schenk S, Martinez L, Vergnes L, Narkar VA, Drew BG, Hong C, Boyadjian R, Hevener AL, Evans RM, Reue K, Spencer MJ, Newgard CB, Tontonoz P. Skeletal muscle Nur77 expression enhances oxidative metabolism and substrate utilization.. Journal of lipid research, 2012.
- Jaka O, Kramerova I, Azpitarte M, López de Munain A, Spencer M, Sáenz A. C3KO mouse expression analysis: downregulation of the muscular dystrophy Ky protein and alterations in muscle aging.. Neurogenetics, 2012.
- Kudryashova E, Kramerova I, Spencer MJ. Satellite cell senescence underlies myopathy in a mouse model of limb-girdle muscular dystrophy 2H.. The Journal of clinical investigation, 2012.
- Kudryashova E, Struyk A, Mokhonova E, Cannon SC, Spencer MJ. The common missense mutation D489N in TRIM32 causing limb girdle muscular dystrophy 2H leads to loss of the mutated protein in knock-in mice resulting in a Trim32-null phenotype.. Human molecular genetics, 2011.
- Ermolova N, Kudryashova E, DiFranco M, Vergara J, Kramerova I, Spencer MJ. Pathogenity of some limb girdle muscular dystrophy mutations can result from reduced anchorage to myofibrils and altered stability of calpain 3.. Human molecular genetics, 2011.
- Kim MH, Kay DI, Rudra RT, Chen BM, Hsu N, Izumiya Y, Martinez L, Spencer MJ, Walsh K, Grinnell AD, Crosbie RH. Myogenic Akt signaling attenuates muscular degeneration, promotes myofiber regeneration and improves muscle function in dystrophin-deficient mdx mice.. Human molecular genetics, 2011.
- Shieh PB, Kudryashova E, Spencer MJ. Limb-girdle muscular dystrophy 2H and the role of TRIM32.. Handbook of clinical neurology, 2011.
- Nelson SF, Crosbie RH, Miceli MC, Spencer MJ. Emerging genetic therapies to treat Duchenne muscular dystrophy.. Current opinion in neurology, 2009.
- Mellgren RL, Miyake K, Kramerova I, Spencer MJ, Bourg N, Bartoli M, Richard I, Greer PA, McNeil PL. Calcium-dependent plasma membrane repair requires m- or mu-calpain, but not calpain-3, the proteasome, or caspases.. Biochimica et biophysica acta, 2009.
- Kramerova I, Kudryashova E, Wu B, Germain S, Vandenborne K, Romain N, Haller RG, Verity MA, Spencer MJ. Mitochondrial abnormalities, energy deficit and oxidative stress are features of calpain 3 deficiency in skeletal muscle.. Human molecular genetics, 2009.
- Vetrone SA, Montecino-Rodriguez E, Kudryashova E, Kramerova I, Hoffman EP, Liu SD, Miceli MC, Spencer MJ. Osteopontin promotes fibrosis in dystrophic mouse muscle by modulating immune cell subsets and intramuscular TGF-beta.. The Journal of clinical investigation, 2009.
- Kudryashova E, Wu J, Havton LA, Spencer MJ. Deficiency of the E3 ubiquitin ligase TRIM32 in mice leads to a myopathy with a neurogenic component.. Human molecular genetics, 2009.
- Beckmann JS, Spencer M. Calpain 3, the "gatekeeper" of proper sarcomere assembly, turnover and maintenance.. Neuromuscular disorders : NMD, 2008.
- Kramerova I, Kudryashova E, Wu B, Ottenheijm C, Granzier H, Spencer MJ. Novel role of calpain-3 in the triad-associated protein complex regulating calcium release in skeletal muscle.. Human molecular genetics, 2008.
- Groshong JS, Spencer MJ, Bhattacharyya BJ, Kudryashova E, Vohra BP, Zayas R, Wollmann RL, Miller RJ, Gomez CM. Calpain activation impairs neuromuscular transmission in a mouse model of the slow-channel myasthenic syndrome.. The Journal of clinical investigation, 2007.
- Cohen N, Kudryashova E, Kramerova I, Anderson LV, Beckmann JS, Bushby K, Spencer MJ. Identification of putative in vivo substrates of calpain 3 by comparative proteomics of overexpressing transgenic and nontransgenic mice.. Proteomics, 2006.
- Kramerova I, Kudryashova E, Wu B, Spencer MJ. Regulation of the M-cadherin-beta-catenin complex by calpain 3 during terminal stages of myogenic differentiation.. Molecular and cellular biology, 2006.
- Kramerova I, Beckmann JS, Spencer MJ. Molecular and cellular basis of calpainopathy (limb girdle muscular dystrophy type 2A).. Biochimica et biophysica acta, 2006.
- Nazarian R, Starcevic M, Spencer MJ, Dell'Angelica EC. Reinvestigation of the dysbindin subunit of BLOC-1 (biogenesis of lysosome-related organelles complex-1) as a dystrobrevin-binding protein.. The Biochemical journal, 2006.
- Kudryashova E, Kudryashov D, Kramerova I, Spencer MJ. Trim32 is a ubiquitin ligase mutated in limb girdle muscular dystrophy type 2H that binds to skeletal muscle myosin and ubiquitinates actin.. Journal of molecular biology, 2005.
- Huebsch KA, Kudryashova E, Wooley CM, Sher RB, Seburn KL, Spencer MJ, Cox GA. Mdm muscular dystrophy: interactions with calpain 3 and a novel functional role for titin's N2A domain.. Human molecular genetics, 2005.
- Kramerova I, Kudryashova E, Venkatraman G, Spencer MJ. Calpain 3 participates in sarcomere remodeling by acting upstream of the ubiquitin-proteasome pathway.. Human molecular genetics, 2005.
- Kramerova I, Kudryashova E, Tidball JG, Spencer MJ. Null mutation of calpain 3 (p94) in mice causes abnormal sarcomere formation in vivo and in vitro.. Human molecular genetics, 2004.
- Guyon JR, Kudryashova E, Potts A, Dalkilic I, Brosius MA, Thompson TG, Beckmann JS, Kunkel LM, Spencer MJ. Calpain 3 cleaves filamin C and regulates its ability to interact with gamma- and delta-sarcoglycans.. Muscle & nerve, 2003.
- Gosselin LE, Barkley JE, Spencer MJ, McCormick KM, Farkas GA. Ventilatory dysfunction in mdx mice: impact of tumor necrosis factor-alpha deletion.. Muscle & nerve, 2003.
- Tidball JG, Spencer MJ. Skipping to new gene therapies for muscular dystrophy.. Nature medicine, 2003.
- Hodgetts SI, Spencer MJ, Grounds MD. A role for natural killer cells in the rapid death of cultured donor myoblasts after transplantation.. Transplantation, 2003.
- Tidball JG, Spencer MJ. Expression of a calpastatin transgene slows muscle wasting and obviates changes in myosin isoform expression during murine muscle disuse.. The Journal of physiology, 2002.
- Spencer MJ, Mellgren RL. Overexpression of a calpastatin transgene in mdx muscle reduces dystrophic pathology.. Human molecular genetics, 2002.
- Spencer MJ, Guyon JR, Sorimachi H, Potts A, Richard I, Herasse M, Chamberlain J, Dalkilic I, Kunkel LM, Beckmann JS. Stable expression of calpain 3 from a muscle transgene in vivo: immature muscle in transgenic mice suggests a role for calpain 3 in muscle maturation.. Proceedings of the National Academy of Sciences of the United States of America, 2002.
- Taveau M, Stockholm D, Spencer M, Richard I. Quantification of splice variants using molecular beacon or scorpion primers.. Analytical biochemistry, 2002.
- Spencer MJ, Tidball JG. Do immune cells promote the pathology of dystrophin-deficient myopathies?. Neuromuscular disorders : NMD, 2001.
- Spencer MJ, Marino MW, Winckler WM. Altered pathological progression of diaphragm and quadriceps muscle in TNF-deficient, dystrophin-deficient mice.. Neuromuscular disorders : NMD, 2000.