Advances in the development of cell therapy for muscular dystrophies

Flanigan KM. The muscular dystrophies. Semin Neurol.

; 32: 255-263. doi: 10.1055/s-0032-1329199.

Theadom A et al. Prevalence of muscular dystrophies: a

systematic literature review. Neuroepidemiology. 2014;

: 259-268. doi: 10.1159/000369343.

Emery AE. Population frequencies of inherited neu

romuscular diseases –a world survey. Neuromuscul

Disord. 1991; 1: 19-29.

Kumar A, Khandelwal N, Malya R, Reid MB, Boriek

AM. Loss of dystrophin causes aberrant mechanotrans

duction in skeletal muscle fibers. FASEB J. 2004; 18:

-113. doi: 10.1096/fj.03-0453com.

Harper PS, van Engelen BG, Eymard B, Rogers M,

Wilcox D. 99th ENMC international workshop: myotonic

dystrophy: present management, future therapy. 9-11

November 2001, Naarden, The Netherlands. Neuro

muscul Disord. 2002; 12: 596-599.

Mahadevan M et al. Myotonic dystrophy mutation: an

unstable CTG repeat in the 3’ untranslated region of the

gene. Science. 1992; 255: 1253-1255.

Schara U, Schoser BG. Myotonic dystrophies type 1 and

: a summary on current aspects. Semin Pediatr Neurol.

; 13: 71-79. doi: 10.1016/j.spen.2006.06.002.

Shieh PB. Muscular dystrophies and other genetic

myopathies. Neurol Clin. 2013; 31: 1009-1029. doi:

1016/j.ncl.2013.04.004.

Weissman IL. Stem cells: units of development, units

of regeneration, and units in evolution. Cell. 2000; 100:

-168.

Mauro A. Satellite cell of skeletal muscle fibers. J Bio

phys Biochem Cytol. 1961; 9: 493-495.

Carlson BM. The regeneration of skeletal muscle. A

review. Am J Anat. 1973; 137: 119-149. doi: 10.1002/

aja.1001370202.

Partridge TA, Morgan JE, Coulton GR, Hoffman

EP, Kunkel LM. Conversion of mdx myofibres from

dystrophin-negative to -positive by injection of nor

mal myoblasts. Nature. 1989; 337: 176-179. doi:

1038/337176a0.

Huard J, Verreault S, Roy R, Tremblay M, Tremblay

JP. High efficiency of muscle regeneration after hu

man myoblast clone transplantation in SCID mice.

J Clin Invest. 1994; 93: 586-599. doi: 10.1172/

JCI117011.

Kinoshita I et al. Very efficient myoblast allotrans

plantation in mice under FK506 immunosuppression.

Muscle Nerve. 1994; 17: 1407-1415. doi: 10.1002/

mus.880171210.

Gussoni E, Blau HM, Kunkel LM. The fate of individual

myoblasts after transplantation into muscles of DMD

patients. Nature Medicine. 1997; 3: 970-977.

Mendell JR et al. Myoblast transfer in the treatment of

Duchenne’s muscular dystrophy. N Engl J Med. 1995;

: 832-838. doi: 10.1056/NEJM199509283331303.

Miller RG et al. Myoblast implantation in Duchenne

muscular dystrophy: the San Francisco study. Muscle

Nerve. 1997; 20: 469-478.

Minasi MG et al. The meso-angioblast: a multipotent,

self-renewing cell that originates from the dorsal aorta

and differentiates into most mesodermal tissues. Deve

lopment. 2002; 129: 2773-2783.

Sampaolesi M et al. Mesoangioblast stem cells amelio

rate muscle function in dystrophic dogs. Nature. 2006;

: 574-579. doi: 10.1038/nature05282.

Sampaolesi M et al. Cell therapy of alpha-sarcoglycan

null dystrophic mice through intra-arterial delivery of

mesoangioblasts. Science. 2003; 301: 487-492. doi:

1126/science.1082254.

Dellavalle A et al. Pericytes resident in postnatal skeletal

muscle differentiate into muscle fibres and generate

satellite cells. Nat Commun. 2001; 2: 499. doi: 10.1038/

ncomms1508.

Qu-Petersen Z et al. Identification of a novel population

of muscle stem cells in mice: potential for muscle rege

neration. J Cell Biol. 2002; 157: 851-864. doi: 10.1083/

jcb.200108150.

Sarig R, Baruchi Z, Fuchs O, Nudel U, Yaffe D.

Regeneration and transdifferentiation potential of

muscle-derived stem cells propagated as myospheres.

Stem Cells. 2006; 24: 1769-1778. doi: 10.1634/stem

cells.2005-0547.

Torrente Y et al. Identification of a putative pathway for

the muscle homing of stem cells in a muscular dystrophy

model. J Cell Biol. 2003; 162: 511-520. doi: 10.1083/

jcb.200210006.

Torrente Y et al. Intraarterial injection of muscle-derived

CD34(+)Sca-1(+) stem cells restores dystrophin in mdx

mice. J Cell Biol. 2001; 152: 335-348.

Chirieleison SM, Feduska JM, Schugar RC, Askew Y,

Deasy BM. Human muscle-derived cell populations

isolated by differential adhesion rates: phenotype and

contribution to skeletal muscle regeneration in Mdx/

SCID mice. Tissue Eng Part A. 2012; 18: 232-241. doi:

1089/ten.TEA.2010.0553.

Torrente Y et al. Human circulating AC133(+) stem cells

restore dystrophin expression and ameliorate function

in dystrophic skeletal muscle. J Clin Invest. 2004; 114:

-195. doi: 10.1172/JCI20325.

Torrente Y et al. Autologous transplantation of muscle

derived CD133+ stem cells in Duchenne muscle pa

tients. Cell Transplant. 2007; 16: 563-577.

Meng J, Muntoni F, Morgan JE. Stem cells to treat mus

cular dystrophies –where are we? Neuromuscul Disord.

; 21: 4-12. doi: 10.1016/j.nmd.2010.10.004.

Evans MJ, Kaufman MH. Establishment in culture of

pluripotential cells from mouse embryos. Nature. 1981;

: 154-156.

Bodnar MS, Meneses JJ, Rodriguez RT, Firpo MT.

Propagation and maintenance of undifferentiated human

embryonic stem cells. Stem Cells Dev. 2004; 13: 243

doi: 10.1089/154732804323099172.

Sanchez A, Jones WK, Gulick J, Doetschman T, Rob

bins J. Myosin heavy chain gene expression in mouse

embryoid bodies. An in vitro developmental study. J Biol

Chem. 1991; 266: 22419-22426.

Bhagavati S, Xu W. Generation of skeletal muscle from

transplanted embryonic stem cells in dystrophic mice.

Biochem Biophys Res Commun. 2005; 333: 644-649.

doi: 10.1016/j.bbrc.2005.05.135.

Barberi T et al. Derivation of engraftable skeletal myo

blasts from human embryonic stem cells. Nat Med. 2007;

: 642-648. doi: 10.1038/nm1533.

Darabi R et al. Functional skeletal muscle regeneration

from differentiating embryonic stem cells. Nat Med.

; 14: 134-143. doi: 10.1038/nm1705.

Darabi R et al. Engraftment of embryonic stem cell

derived myogenic progenitors in a dominant model of

muscular dystrophy. Experimental Neurology. 2009;

: 212-216. doi: 10.1016/j.expneurol.2009.08.002.

Filareto A, Darabi R, Perlingeiro RC. Engraftment of

ES-derived myogenic progenitors in a severe mouse

model of muscular dystrophy. J Stem Cell Res Ther.

; 10. doi: 10.4172/2157-7633.S10-001.

Takahashi K, Okita K, Nakagawa M, Yamanaka S.

Induction of pluripotent stem cells from fibroblast cul

tures. Nat Protoc. 2007; 2: 3081-3089. doi: 10.1038/

nprot.2007.418.

Takahashi K et al. Induction of pluripotent stem cells

from adult human fibroblasts by defined factors. Cell.

; 131: 861-872. doi: 10.1016/j.cell.2007.11.019.

Yuan TF, Arias-Carrion O. Locally induced neural stem cells/

pluripotent stem cells for in vivo cell replacement therapy.

Int Arch Med. 2008; 1: 17. doi: 10.1186/1755-7682-1-17.

Mali P et al. Improved efficiency and pace of generating

induced pluripotent stem cells from human adult and

fetal fibroblasts. Stem Cells. 2008; 26: 1998-2005. doi:

1634/stemcells.2008-0346.

Ebert AD et al. Induced pluripotent stem cells from a

spinal muscular atrophy patient. Nature. 2009; 457:

-280. doi: 10.1038/nature07677.

Park IH et al. Reprogramming of human somatic cells

to pluripotency with defined factors. Nature. 2008; 451:

-146. doi: 10.1038/nature06534.

Maherali N et al. Directly reprogrammed fibroblasts

show global epigenetic remodeling and widespread

tissue contribution. Cell Stem Cell. 2007; 1: 55-70. doi:

1016/j.stem.2007.05.014.

Wernig M. et al. In vitro reprogramming of fibroblasts

into a pluripotent ES-cell-like state. Nature. 2007; 448:

-324. doi: 10.1038/nature05944.

Masaki H et al. Heterogeneity of pluripotent marker

gene expression in colonies generated in human iPS

cell induction culture. Stem Cell Res. 2007; 1: 105-115.

doi: 10.1016/j.scr.2008.01.001.

Okita K, Ichisaka T, Yamanaka S. Generation of ger

mline-competent induced pluripotent stem cells. Nature.

; 448: 313-317. doi: 10.1038/nature05934.

Darabi R et al. Functional myogenic engraftment from

mouse iPS cells. Stem Cell Reviews. 2011; 7: 948-957.

doi: 10.1007/s12015-011-9258-2.

Darabi R et al. Human ES- and iPS-derived myo

genic progenitors restore dystrophin and improve

contractility upon transplantation in dystrophic mice.

Cell Stem Cell. 2012; 10: 610-619. doi: 10.1016/j.

stem.2012.02.015.

Awaya T et al. Selective development of myogenic

mesenchymal cells from human embryonic and induced

pluripotent stem cells. PLoS One. 2012; 7: e51638. doi:

1371/journal.pone.0051638.

Filareto A et al. An ex vivo gene therapy approach to treat

muscular dystrophy using inducible pluripotent stem cells.

Nat Commun. 2013; 4: 1549. doi: 10.1038/ncomms2550.

Tedesco FS et al. Transplantation of genetically co

rrected human iPSC-derived progenitors in mice with

limb-girdle muscular dystrophy. Sci Transl Med. 2012;

: 140ra189. doi: 10.1126/scitranslmed.3003541.

Li HL et al. Precise correction of the dystrophin gene

in Duchenne muscular dystrophy patient induced

pluripotent stem cells by TALEN and CRISPR-Cas9.

Stem Cell Reports. 2015; 4: 143-154. doi: 10.1016/j.

stemcr.2014.10.013.