Harvard Catalyst Profiles

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

Louis Martens Kunkel, Ph.D.

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Institution
Department
Address
Phone
Fax
Other Positions
Title
Institution
Department

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
    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
    Boston Intellectual and Developmental Disabilities Research Center
    Role: Co-Principal Investigator
  3. R01AR064300 (KUNKEL, LOUIS M) Apr 1, 2014 - Jul 31, 2024
    NIH
    Modulation of Jagged1/Pitpna in DMD as a means of therapy
    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
    Genetic Studies of Interstitial Cystitis
    Role: Co-Principal Investigator

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. Alexander MS, Hightower RM, Reid AL, Bennett AH, Iyer L, Slonim DK, Saha M, Kawahara G, Kunkel LM, Kopin AS, Gupta VA, Kang PB, Draper I. hnRNP L is essential for myogenic differentiation and modulates myotonic dystrophy pathologies. Muscle Nerve. 2021 Mar 02. PMID: 33651408.
    Citations:    Fields:    
  2. Oláhová M, Peter B, Szilagyi Z, Diaz-Maldonado H, Singh M, Sommerville EW, Blakely EL, Collier JJ, Hoberg E, Stránecký V, Hartmannová H, Bleyer AJ, McBride KL, Bowden SA, Korandová Z, Pecinová A, Ropers HH, Kahrizi K, Najmabadi H, Tarnopolsky MA, Brady LI, Weaver KN, Prada CE, Õunap K, Wojcik MH, Pajusalu S, Syeda SB, Pais L, Estrella EA, Bruels CC, Kunkel LM, Kang PB, Bonnen PE, Mrácek T, Kmoch S, Gorman GS, Falkenberg M, Gustafsson CM, Taylor RW. POLRMT mutations impair mitochondrial transcription causing neurological disease. Nat Commun. 2021 02 18; 12(1):1135. PMID: 33602924.
    Citations:    Fields:    
  3. Lambert MR, Spinazzola JM, Widrick JJ, Pakula A, Conner JR, Chin JE, Owens JM, Kunkel LM. PDE10A Inhibition Reduces the Manifestation of Pathology in DMD Zebrafish and Represses the Genetic Modifier PITPNA. Mol Ther. 2021 03 03; 29(3):1086-1101. PMID: 33221436.
    Citations: 1     Fields:    
  4. Spinazzola JM, Lambert MR, Gibbs DE, Conner JR, Krikorian GL, Pareek P, Rago C, Kunkel LM. Effect of serotonin modulation on dystrophin-deficient zebrafish. Biol Open. 2020 08 28; 9(8). PMID: 32718931.
    Citations: 2     
  5. Lek A, Zhang Y, Woodman KG, Huang S, DeSimone AM, Cohen J, Ho V, Conner J, Mead L, Kodani A, Pakula A, Sanjana N, King OD, Jones PL, Wagner KR, Lek M, Kunkel LM. Applying genome-wide CRISPR-Cas9 screens for therapeutic discovery in facioscapulohumeral muscular dystrophy. Sci Transl Med. 2020 03 25; 12(536). PMID: 32213627.
    Citations: 7     Fields:    
  6. Kunkel LM. To dystrophin and beyond: an interview with Louis Kunkel. Dis Model Mech. 2019 12 12; 13(2). PMID: 31843755.
    Citations: 2     Fields:    Translation:HumansAnimals
  7. Palmer NP, Silvester JA, Lee JJ, Beam AL, Fried I, Valtchinov VI, Rahimov F, Kong SW, Ghodoussipour S, Hood HC, Bousvaros A, Grand RJ, Kunkel LM, Kohane IS. Concordance between gene expression in peripheral whole blood and colonic tissue in children with inflammatory bowel disease. PLoS One. 2019; 14(10):e0222952. PMID: 31618209.
    Citations: 4     Fields:    Translation:Humans
  8. Hightower RM, Reid AL, Gibbs DE, Wang Y, Widrick JJ, Kunkel LM, Kastenschmidt JM, Villalta SA, van Groen T, Chang H, Gornisiewicz S, Landesman Y, Tamir S, Alexander MS. The SINE Compound KPT-350 Blocks Dystrophic Pathologies in DMD Zebrafish and Mice. Mol Ther. 2020 01 08; 28(1):189-201. PMID: 31628052.
    Citations: 5     Fields:    Translation:AnimalsCells
  9. 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 03; 7(3):e552. PMID: 30688039.
    Citations: 2     Fields:    Translation:HumansAnimalsCells
  10. 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 01 15; 28(2):320-331. PMID: 30307508.
    Citations: 4     Fields:    Translation:Animals
  11. Widrick JJ, Kawahara G, Alexander MS, Beggs AH, Kunkel LM. Discovery of Novel Therapeutics for Muscular Dystrophies using Zebrafish Phenotypic Screens. J Neuromuscul Dis. 2019; 6(3):271-287. PMID: 31282429.
    Citations: 10     Fields:    Translation:Animals
  12. 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 09 20; 3(18). PMID: 30232282.
    Citations: 1     Fields:    Translation:HumansAnimalsCells
  13. 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:    
  14. 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 11 01; 50(11):929-939. PMID: 30345904.
    Citations: 4     Fields:    Translation:HumansAnimalsCells
  15. 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: 4     Fields:    Translation:Animals
  16. 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: 10     Fields:    Translation:HumansAnimalsCells
  17. 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: 13     
  18. 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: 8     Fields:    Translation:AnimalsCells
  19. 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: 18     Fields:    Translation:HumansCells
  20. 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: 6     Fields:    
  21. 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: 26     Fields:    Translation:HumansAnimalsCells
  22. 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: 5     Fields: