Harvard Catalyst Profiles

Contact, publication, and social network information about Harvard faculty and fellows.

Louis Martens Kunkel, PH.D.

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Other Positions
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Institution
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Mentoring
completed student projects
Evaluating a New Antibody for SP Cell Sorting/Differentiation Capacity of SP Cells Co-Cultured with DRGs
Summer, 05/01/02 - 08/31/02

Research
research activities and funding
The research activities and funding listed below are automatically derived from NIH ExPORTER and other sources, which might result in incorrect or missing items. Faculty can login to make corrections and additions.
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  1. R41AR074832 (KUNKEL, LOUIS M) Sep 4, 2018 - Aug 31, 2019
    NIH/NIAMS
    Genome-wide CRISPR screen to identify pro-myogenic factors for cell therapy of DMD
    Role: Principal Investigator
  2. U54HD090255 (POMEROY, SCOTT LOREN) Sep 23, 2016 - May 31, 2021
    NIH/NICHD
    Boston Intellectual and Developmental Disabilities Research Center
    Role: Co-Principal Investigator
  3. R01AR064300 (KUNKEL, LOUIS M) Apr 1, 2014 - Mar 31, 2019
    NIH/NIAMS
    MANIPULATION OF PTEN/AKT SIGNALING IN DUCHENNE MUSCULAR DYSTROPHY AS A MEANS OF T
    Role: Principal Investigator
  4. U54HD060848 (EMERSON, CHARLES P.) Sep 10, 2008 - May 31, 2018
    NIH/NICHD
    Biomarkers for Therapy of FSHD (U54)
    Role: Co-Principal Investigator
  5. R01DK081647 (KUNKEL, LOUIS M) Aug 1, 2008 - Jul 31, 2013
    NIH/NIDDK
    Genetic Studies of Interstitial Cystitis
    Role: Co-Principal Investigator
research resources
This researcher has shared information about their research resources in the eagle-i Network. To update or add resource records, contact eagle-i@hms.harvard.edu.
Molecular Genetics Core Facility (BCH) - Core services (15) and Instruments (23)

Bibliographic
selected publications
Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
  1. Bruels CC, Li C, Mendoza T, Khan J, Reddy HM, Estrella EA, Ghosh PS, Darras BT, Lidov HGW, Pacak CA, Kunkel LM, Modave F, Draper I, Kang PB. Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites. Mol Genet Genomic Med. 2019 Mar; 7(3):e552. PMID: 30688039.
    Citations:    Fields:    
  2. Pakula A, Lek A, Widrick J, Mitsuhashi H, Bugda Gwilt KM, Gupta VA, Rahimov F, Criscione J, Zhang Y, Gibbs D, Murphy Q, Manglik A, Mead L, Kunkel L. Transgenic zebrafish model of DUX4 misexpression reveals a developmental role in FSHD pathogenesis. Hum Mol Genet. 2019 Jan 15; 28(2):320-331. PMID: 30307508.
    Citations:    Fields:    
  3. Serafini PR, Feyder MJ, Hightower RM, Garcia-Perez D, Vieira NM, Lek A, Gibbs DE, Moukha-Chafiq O, Augelli-Szafran CE, Kawahara G, Widrick JJ, Kunkel LM, Alexander MS. A limb-girdle muscular dystrophy 2I model of muscular dystrophy identifies corrective drug compounds for dystroglycanopathies. JCI Insight. 2018 Sep 20; 3(18). PMID: 30232282.
    Citations:    Fields:    
  4. Saha M, Reddy HM, Salih M, Estrella E, Jones MD, Mitsuhashi S, Cho KA, Suzuki-Hatano S, Rizzo SA, Hamad MH, Mukhtar MM, Hamed AA, Elseed MA, Lek M, Valkanas E, MacArthur DG, Kunkel LM, Pacak CA, Draper I, Kang PB. The impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan. Physiol Genomics. 2018 08 31. PMID: 30169133.
    Citations:    Fields:    
  5. Saha M, Reddy HM, Salih MA, Estrella E, Jones MD, Mitsuhashi S, Cho KA, Suzuki-Hatano S, Rizzo SA, Hamad MH, Mukhtar MM, Hamed AA, Elseed MA, Lek M, Valkanas E, MacArthur DG, Kunkel LM, Pacak CA, Draper I, Kang PB. Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan. Physiol Genomics. 2018 Nov 01; 50(11):929-939. PMID: 30345904.
    Citations:    Fields:    
  6. Widrick JJ, Gibbs DE, Sanchez B, Gupta VA, Pakula A, Lawrence C, Beggs AH, Kunkel LM. An open source microcontroller based flume for evaluating swimming performance of larval, juvenile, and adult zebrafish. PLoS One. 2018; 13(6):e0199712. PMID: 29944715.
    Citations:    Fields:    Translation:Animals
  7. Vieira NM, Spinazzola JM, Alexander MS, Moreira YB, Kawahara G, Gibbs DE, Mead LC, Verjovski-Almeida S, Zatz M, Kunkel LM. Repression of phosphatidylinositol transfer protein a ameliorates the pathology of Duchenne muscular dystrophy. Proc Natl Acad Sci U S A. 2017 06 06; 114(23):6080-6085. PMID: 28533404.
    Citations: 1     Fields:    Translation:HumansAnimalsCells
  8. Spinazzola JM, Kunkel LM. Pharmacological therapeutics targeting the secondary defects and downstream pathology of Duchenne muscular dystrophy. Expert Opin Orphan Drugs. 2016; 4(11):1179-1194. PMID: 28670506.
    Citations: 1     
  9. Widrick JJ, Alexander MS, Sanchez B, Gibbs DE, Kawahara G, Beggs AH, Kunkel LM. Muscle dysfunction in a zebrafish model of Duchenne muscular dystrophy. Physiol Genomics. 2016 11 01; 48(11):850-860. PMID: 27764767.
    Citations: 2     Fields:    Translation:AnimalsCells
  10. Reddy HM, Cho KA, Lek M, Estrella E, Valkanas E, Jones MD, Mitsuhashi S, Darras BT, Amato AA, Lidov HG, Brownstein CA, Margulies DM, Yu TW, Salih MA, Kunkel LM, MacArthur DG, Kang PB. The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. J Hum Genet. 2017 Feb; 62(2):243-252. PMID: 27708273.
    Citations: 2     Fields:    Translation:HumansCells
  11. Alexander MS, Gasperini MJ, Tsai PT, Gibbs DE, Spinazzola JM, Marshall JL, Feyder MJ, Pletcher MT, Chekler EL, Morris CA, Sahin M, Harms JF, Schmidt CJ, Kleiman RJ, Kunkel LM. Reversal of neurobehavioral social deficits in dystrophic mice using inhibitors of phosphodiesterases PDE5A and PDE9A. Transl Psychiatry. 2016 Sep 27; 6(9):e901. PMID: 27676442.
    Citations: 2     Fields:    
  12. Alexander MS, Rozkalne A, Colletta A, Spinazzola JM, Johnson S, Rahimov F, Meng H, Lawlor MW, Estrella E, Kunkel LM, Gussoni E. CD82 Is a Marker for Prospective Isolation of Human Muscle Satellite Cells and Is Linked to Muscular Dystrophies. Cell Stem Cell. 2016 12 01; 19(6):800-807. PMID: 27641304.
    Citations: 7     Fields:    Translation:HumansAnimalsCells
  13. Reddy HM, Hamed SA, Lek M, Mitsuhashi S, Estrella E, Jones MD, Mahoney LJ, Duncan AR, Cho KA, Macarthur DG, Kunkel LM, Kang PB. Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt. Muscle Nerve. 2016 10; 54(4):690-5. PMID: 26934379.
    Citations: 2     Fields:    Translation:Humans
  14. Kunkel LM, Kunkel HG. Reflections on Henry Kunkel outside the laboratory. Clin Immunol. 2016 11; 172:21-22. PMID: 27438726.
    Citations:    Fields:    
  15. Jabara HH, Boyden SE, Chou J, Ramesh N, Massaad MJ, Benson H, Bainter W, Fraulino D, Rahimov F, Sieff C, Liu ZJ, Alshemmari SH, Al-Ramadi BK, Al-Dhekri H, Arnaout R, Abu-Shukair M, Vatsayan A, Silver E, Ahuja S, Davies EG, Sola-Visner M, Ohsumi TK, Andrews NC, Notarangelo LD, Fleming MD, Al-Herz W, Kunkel LM, Geha RS. A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency. Nat Genet. 2016 Jan; 48(1):74-8. PMID: 26642240; PMCID: PMC4696875.
    Citations: 10     Fields:    Translation:HumansAnimalsCells
  16. Kruger JS, Kodjebacheva GD, Kunkel L, Smith KD, Kruger DJ. Caregiver financial distress, depressive symptoms and limited social capital as barriers to children's dental care in a mid-western county in the United States. Community Dent Health. 2015 Dec; 32(4):252-6. PMID: 26738225.
    Citations:    Fields:    Translation:Humans
  17. Vieira NM, Elvers I, Alexander MS, Moreira YB, Eran A, Gomes JP, Marshall JL, Karlsson EK, Verjovski-Almeida S, Lindblad-Toh K, Kunkel LM, Zatz M. Jagged 1 Rescues the Duchenne Muscular Dystrophy Phenotype. Cell. 2015 Nov 19; 163(5):1204-1213. PMID: 26582133; PMCID: PMC4668935.
    Citations: 29     Fields:    Translation:AnimalsCells
  18. Guiraud S, Aartsma-Rus A, Vieira NM, Davies KE, van Ommen GJ, Kunkel LM. The Pathogenesis and Therapy of Muscular Dystrophies. Annu Rev Genomics Hum Genet. 2015; 16:281-308. PMID: 26048046.
    Citations: 47     Fields:    Translation:HumansAnimals
  19. Kawahara G, Gasperini MJ, Myers JA, Widrick JJ, Eran A, Serafini PR, Alexander MS, Pletcher MT, Morris CA, Kunkel LM. Dystrophic muscle improvement in zebrafish via increased heme oxygenase signaling. Hum Mol Genet. 2015 Aug 01; 24(15):4480-1. PMID: 26034133.
    Citations: 2     Fields:    
  20. Lek A, Rahimov F, Jones PL, Kunkel LM. Emerging preclinical animal models for FSHD. Trends Mol Med. 2015 May; 21(5):295-306. PMID: 25801126; PMCID: PMC4424175.
    Citations: 13     Fields:    Translation:HumansAnimals
  21. Vieira NM, Guo LT, Estrela E, Kunkel LM, Zatz M, Shelton GD. Muscular dystrophy in a family of Labrador Retrievers with no muscle dystrophin and a mild phenotype. Neuromuscul Disord. 2015 May; 25(5):363-70. PMID: 25813339.
    Citations: 6     Fields:    Translation:Animals
  22. Al-Zaidy SA, Malik V, Kneile K, Rosales XQ, Gomez AM, Lewis S, Hashimoto S, Gastier-Foster J, Kang P, Darras B, Kunkel L, Carlo J, Sahenk Z, Moore SA, Pyatt R, Mendell JR. A slowly progressive form of limb-girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics. Mol Genet Genomic Med. 2015 Mar; 3(2):92-8. PMID: 25802879; PMCID: PMC4367081.
    Citations: 1     Fields:    
  23. Alexander MS, Kunkel LM. Skeletal Muscle MicroRNAs: Their Diagnostic and Therapeutic Potential in Human Muscle Diseases. J Neuromuscul Dis. 2015; 2(1):1-11. PMID: 27547731.
    Citations: 6     Fields:    
  24. Wang Y, Marino-Enriquez A, Bennett RR, Zhu M, Shen Y, Eilers G, Lee JC, Henze J, Fletcher BS, Gu Z, Fox EA, Antonescu CR, Fletcher CD, Guo X, Raut CP, Demetri GD, van de Rijn M, Ordog T, Kunkel LM, Fletcher JA. Dystrophin is a tumor suppressor in human cancers with myogenic programs. Nat Genet. 2014 Jun; 46(6):601-6. PMID: 24793134; PMCID: PMC4225780.
    Citations: 36     Fields:    Translation:HumansAnimalsCells
  25. Alexander MS, Casar JC, Motohashi N, Vieira NM, Eisenberg I, Marshall JL, Gasperini MJ, Lek A, Myers JA, Estrella EA, Kang PB, Shapiro F, Rahimov F, Kawahara G, Widrick JJ, Kunkel LM. MicroRNA-486-dependent modulation of DOCK3/PTEN/AKT signaling pathways improves muscular dystrophy-associated symptoms. J Clin Invest. 2014 Jun; 124(6):2651-67. PMID: 24789910; PMCID: PMC4038577.
    Citations: 28     Fields:    Translation:HumansAnimalsCells
  26. Balasubramanian A, Kawahara G, Gupta VA, Rozkalne A, Beauvais A, Kunkel LM, Gussoni E. Fam65b is important for formation of the HDAC6-dysferlin protein complex during myogenic cell differentiation. FASEB J. 2014 Jul; 28(7):2955-69. PMID: 24687993; PMCID: PMC4062822.
    Citations: 8     Fields:    Translation:HumansAnimalsCells
  27. Vieira NM, Naslavsky MS, Licinio L, Kok F, Schlesinger D, Vainzof M, Sanchez N, Kitajima JP, Gal L, Cavaçana N, Serafini PR, Chuartzman S, Vasquez C, Mimbacas A, Nigro V, Pavanello RC, Schuldiner M, Kunkel LM, Zatz M. A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G). Hum Mol Genet. 2014 Aug 01; 23(15):4103-10. PMID: 24647604.
    Citations: 23     Fields:    Translation:HumansAnimalsCells
  28. Kong SW, Sahin M, Collins CD, Wertz MH, Campbell MG, Leech JD, Krueger D, Bear MF, Kunkel LM, Kohane IS. Divergent dysregulation of gene expression in murine models of fragile X syndrome and tuberous sclerosis. Mol Autism. 2014 Feb 24; 5(1):16. PMID: 24564913; PMCID: PMC3940253.
    Citations: 6     Fields:    
  29. Zhang Y, King OD, Rahimov F, Jones TI, Ward CW, Kerr JP, Liu N, Emerson CP, Kunkel LM, Partridge TA, Wagner KR. Human skeletal muscle xenograft as a new preclinical model for muscle disorders. Hum Mol Genet. 2014 Jun 15; 23(12):3180-8. PMID: 24452336.
    Citations: 14     Fields:    Translation:HumansAnimals
  30. Kawahara G, Gasperini MJ, Myers JA, Widrick JJ, Eran A, Serafini PR, Alexander MS, Pletcher MT, Morris CA, Kunkel LM. Dystrophic muscle improvement in zebrafish via increased heme oxygenase signaling. Hum Mol Genet. 2014 Apr 01; 23(7):1869-78. PMID: 24234649; PMCID: PMC3943523.
    Citations: 10     Fields:    Translation:AnimalsCells
  31. Mitsuhashi S, Boyden SE, Estrella EA, Jones TI, Rahimov F, Yu TW, Darras BT, Amato AA, Folkerth RD, Jones PL, Kunkel LM, Kang PB. Exome sequencing identifies a novel SMCHD1 mutation in facioscapulohumeral muscular dystrophy 2. Neuromuscul Disord. 2013 Dec; 23(12):975-80. PMID: 24128691; PMCID: PMC3851942.
    Citations: 10     Fields:    Translation:Humans
  32. Alexander MS, Kawahara G, Motohashi N, Casar JC, Eisenberg I, Myers JA, Gasperini MJ, Estrella EA, Kho AT, Mitsuhashi S, Shapiro F, Kang PB, Kunkel LM. MicroRNA-199a is induced in dystrophic muscle and affects WNT signaling, cell proliferation, and myogenic differentiation. Cell Death Differ. 2013 Sep; 20(9):1194-208. PMID: 23764775; PMCID: PMC3741500.
    Citations: 39     Fields:    Translation:HumansAnimalsCells
  33. Vardarajan BN, Eran A, Jung JY, Kunkel LM, Wall DP. Haplotype structure enables prioritization of common markers and candidate genes in autism spectrum disorder. Transl Psychiatry. 2013 May 28; 3:e262. PMID: 23715297; PMCID: PMC3669925.
    Citations: 9     Fields:    Translation:HumansCells
  34. Rahimov F, Kunkel LM. The cell biology of disease: cellular and molecular mechanisms underlying muscular dystrophy. J Cell Biol. 2013 May 13; 201(4):499-510. PMID: 23671309; PMCID: PMC3653356.
    Citations: 63     Fields:    Translation:HumansAnimalsCells
  35. Kong SW, Shimizu-Motohashi Y, Campbell MG, Lee IH, Collins CD, Brewster SJ, Holm IA, Rappaport L, Kohane IS, Kunkel LM. Peripheral blood gene expression signature differentiates children with autism from unaffected siblings. Neurogenetics. 2013 May; 14(2):143-52. PMID: 23625158; PMCID: PMC3686296.
    Citations: 10     Fields:    Translation:HumansCells
  36. Motohashi N, Alexander MS, Shimizu-Motohashi Y, Myers JA, Kawahara G, Kunkel LM. Regulation of IRS1/Akt insulin signaling by microRNA-128a during myogenesis. J Cell Sci. 2013 Jun 15; 126(Pt 12):2678-91. PMID: 23606743; PMCID: PMC3687700.
    Citations: 25     Fields:    Translation:AnimalsCells
  37. Kawahara G, Kunkel LM. Zebrafish based small molecule screens for novel DMD drugs. Drug Discov Today Technol. 2013; 10(1):e91-6. PMID: 24050235.
    Citations: 4     Fields:    Translation:Animals
  38. Kawahara G, Kunkel LM. Zebrafish based small molecule screens for novel DMD drugs. Drug Discov Today Technol. 2013; 10(1):e91-e96. PMID: 23646060.
    Citations: 5     Fields:    
  39. Kong SW, Collins CD, Shimizu-Motohashi Y, Holm IA, Campbell MG, Lee IH, Brewster SJ, Hanson E, Harris HK, Lowe KR, Saada A, Mora A, Madison K, Hundley R, Egan J, McCarthy J, Eran A, Galdzicki M, Rappaport L, Kunkel LM, Kohane IS. Characteristics and predictive value of blood transcriptome signature in males with autism spectrum disorders. PLoS One. 2012; 7(12):e49475. PMID: 23227143.
    Citations: 35     Fields:    Translation:HumansCells
  40. Mitsuhashi H, Mitsuhashi S, Lynn-Jones T, Kawahara G, Kunkel LM. Expression of DUX4 in zebrafish development recapitulates facioscapulohumeral muscular dystrophy. Hum Mol Genet. 2013 Feb 01; 22(3):568-77. PMID: 23108159; PMCID: PMC3606007.
    Citations: 26     Fields:    Translation:HumansAnimalsCells
  41. Rahimov F, King OD, Leung DG, Bibat GM, Emerson CP, Kunkel LM, Wagner KR. Transcriptional profiling in facioscapulohumeral muscular dystrophy to identify candidate biomarkers. Proc Natl Acad Sci U S A. 2012 Oct 02; 109(40):16234-9. PMID: 22988124; PMCID: PMC3479603.
    Citations: 26     Fields:    Translation:Humans
  42. Gupta VA, Kawahara G, Myers JA, Chen AT, Hall TE, Manzini MC, Currie PD, Zhou Y, Zon LI, Kunkel LM, Beggs AH. A splice site mutation in laminin-a2 results in a severe muscular dystrophy and growth abnormalities in zebrafish. PLoS One. 2012; 7(8):e43794. PMID: 22952766; PMCID: PMC3428294.
    Citations: 13     Fields:    Translation:HumansAnimalsCells
  43. Eran A, Li JB, Vatalaro K, McCarthy J, Rahimov F, Collins C, Markianos K, Margulies DM, Brown EN, Calvo SE, Kohane IS, Kunkel LM. Comparative RNA editing in autistic and neurotypical cerebella. Mol Psychiatry. 2013 Sep; 18(9):1041-8. PMID: 22869036.
    Citations: 17     Fields:    Translation:HumansCells
  44. Lawlor MW, Alexander MS, Viola MG, Meng H, Joubert R, Gupta V, Motohashi N, Manfready RA, Hsu CP, Huang P, Buj-Bello A, Kunkel LM, Beggs AH, Gussoni E. Myotubularin-deficient myoblasts display increased apoptosis, delayed proliferation, and poor cell engraftment. Am J Pathol. 2012 Sep; 181(3):961-8. PMID: 22841819; PMCID: PMC3432426.
    Citations: 13     Fields:    Translation:HumansAnimalsCells
  45. Jones TI, Chen JC, Rahimov F, Homma S, Arashiro P, Beermann ML, King OD, Miller JB, Kunkel LM, Emerson CP, Wagner KR, Jones PL. Facioscapulohumeral muscular dystrophy family studies of DUX4 expression: evidence for disease modifiers and a quantitative model of pathogenesis. Hum Mol Genet. 2012 Oct 15; 21(20):4419-30. PMID: 22798623; PMCID: PMC3459465.
    Citations: 56     Fields:    Translation:Humans
  46. Motohashi N, Alexander MS, Casar JC, Kunkel LM. Identification of a novel microRNA that regulates the proliferation and differentiation in muscle side population cells. Stem Cells Dev. 2012 Nov 01; 21(16):3031-43. PMID: 22541023; PMCID: PMC3475146.
    Citations: 12     Fields:    Translation:AnimalsCells
  47. Kohane IS, McMurry A, Weber G, MacFadden D, Rappaport L, Kunkel L, Bickel J, Wattanasin N, Spence S, Murphy S, Churchill S. The co-morbidity burden of children and young adults with autism spectrum disorders. PLoS One. 2012; 7(4):e33224. PMID: 22511918.
    Citations: 89     Fields:    Translation:Humans
  48. Boyden SE, Mahoney LJ, Kawahara G, Myers JA, Mitsuhashi S, Estrella EA, Duncan AR, Dey F, D