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Kunkel, Louis
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Louis Martens Kunkel, Ph.D.
Title
Professor of Pediatrics
Institution
Boston Children's Hospital
Department
Pediatrics
Address
Children's Hospital
Division of Genetics, Enders 570
320 Longwood Avenue
Boston MA 02115
Phone
617/355-7576
Fax
617/730-0253
vCard
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Other Positions
Title
Professor of Genetics
Institution
Immune Disease Institute
Department
Genetics
completed student projects
|
research activities and funding
|
selected publications
|
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.
Most Recent
|
List All
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
U54HD090255
(POMEROY, SCOTT LOREN)
Sep 23, 2016 - May 31, 2021
NIH
Boston Intellectual and Developmental Disabilities Research Center
Role: Co-Principal Investigator
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
U54HD060848
(EMERSON, CHARLES P.)
Sep 10, 2008 - May 31, 2018
NIH/NICHD
Biomarkers for Therapy of FSHD (U54)
Role: Co-Principal Investigator
R01DK081647
(KUNKEL, LOUIS M)
Aug 1, 2008 - Jul 31, 2013
NIH
Genetic Studies of Interstitial Cystitis
Role: Co-Principal Investigator
R01MH085143
(KUNKEL, LOUIS M)
Jul 22, 2008 - Dec 31, 2013
NIH
RNA Expression Patterns in Autism
Role: Principal Investigator
P01NS040828
(KUNKEL, LOUIS M)
Sep 25, 2001 - Aug 31, 2007
NIH
Gene expression in normal &diseased muscle development
Role: Principal Investigator
P50NS040828
(KUNKEL, LOUIS M)
Dec 1, 2000 - Mar 31, 2012
NIH
Pathogenesis and Treatment of Muscular Dystrophy
Role: Principal Investigator
S10RR011258
(KUNKEL, LOUIS M)
Sep 15, 1996 - Sep 14, 1997
NIH
AUTOMATED DNA SEQUENCER
Role: Principal Investigator
S10RR006285
(KUNKEL, LOUIS M)
Jul 12, 1991 - Jul 11, 1992
NIH
AUTOMATED DNA SEQUENCER
Role: Principal Investigator
R01NS023740
(KUNKEL, LOUIS M)
Jul 1, 1986 - Jun 30, 1999
NIH
DYSTROPHIN AND RELATED PROTEINS IN NEUROMUSCULAR DISEASE
Role: Principal Investigator
P01HD018658
(KUNKEL, LOUIS M)
Jan 1, 1983 - Dec 31, 1998
NIH
GENETIC AND CYTOGENETIC STUDIES OF MENTAL RETARDATION
Role: Co-Principal Investigator
P30HD018655
(POMEROY, SCOTT LOREN)
Jan 1, 1983 - Dec 31, 1991
NIH
Intellectual and Developmental Disablities Research Center
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.
Newest
|
Oldest
|
Most Cited
|
Most Discussed
|
Timeline
|
Field Summary
|
Plain Text
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.
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:
Neu
Neurology
Phy
Physiology
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:
Bio
Biology
Sci
Science
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:
Mol
Molecular Biology
The
Therapeutics
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
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:
Med
Medicine (General)
Sci
Science
Kunkel LM
. To dystrophin and beyond: an interview with Louis Kunkel. Dis Model Mech. 2019 12 12; 13(2).
PMID:
31843755
.
Citations:
2
Fields:
Med
Medicine (General)
Translation:
Humans
Animals
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:
Med
Medicine (General)
Sci
Science
Translation:
Humans
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:
Mol
Molecular Biology
The
Therapeutics
Translation:
Animals
Cells
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:
Gen
Genetics
Mol
Molecular Biology
Translation:
Humans
Animals
Cells
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:
Gen
Genetics
Mol
Molecular Biology
Translation:
Animals
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:
Neu
Neurology
Translation:
Animals
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:
Med
Medicine (General)
Translation:
Humans
Animals
Cells
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:
Mol
Molecular Biology
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:
Mol
Molecular Biology
Translation:
Humans
Animals
Cells
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:
Med
Medicine (General)
Sci
Science
Translation:
Animals
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:
Sci
Science
Translation:
Humans
Animals
Cells
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
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:
Mol
Molecular Biology
Translation:
Animals
Cells
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:
Gen
Genetics
Translation:
Humans
Cells
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:
Psy
Psychiatry
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:
Cel
Cell Biology
Translation:
Humans
Animals
Cells
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:
Neu
Neurology
Phy