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Table 1 Neurological and psychiatric diseases where iPS cells have been derived from affected individuals

From: Induced pluripotent stem cells in the study of neurological diseases

Disease Reference Molecular defect Phenotype of iPS-derived cells Therapeutic response (compound)
Down syndrome Park and colleagues [48] Trisomy 21 ND ND
Lesch-Nyhan syndrome (carrier state) Park and colleagues [48] Heterozygous point mutations in HPRT1 gene ND ND
  Khan and colleagues [55]    
Huntington disease Park and colleagues [48] Trinucleotide expansion in HUNTINGTIN ND ND
  Zhang and colleagues [50]   Enhanced caspase 3/7 activity after growth factor withdrawal ND
Duchenne and Becker muscular dystrophy Park and colleagues [48] Mutations in DYSTROPHIN ND ND
  Kazuki and colleagues [49]    
Familial amyotrophic lateral sclerosis Dimos and colleagues [13] Mutations in SOD1 gene ND ND
  Boulting and colleagues [34]    
Spinal muscular atrophy Ebert and colleagues [14] Mutations in SMN1 gene Reduced size and number of motor neurons, reduced SMN protein in iPS cells Increased SMN gem number in SMA iPS cells (valproic acid, tobramycin)
Familial dysautonomia Lee and colleagues [29] Partial skipping of exon 20 of IKBKAP, reduced IKAP protein Decreased expression of genes involved in neurogenesis and neuronal differentiation; defect in neural crest migration Increase in the percentage of differentiating neurons and in the expression of peripheral neuron markers (kinetin)
Fragile × syndrome Urbach and colleagues [56] Trinucleotide (CGG) expansion, silencing of FMR1 ND ND
Angelman syndrome and Prader-Willi syndrome Chamberlain and colleagues [51] Chromosome 15q deletion (imprinting disorders) ND ND
  Yang and colleagues [52]    
Parkinson disease Park and colleagues [48] Unknown (sporadic) ND ND
  Soldner and colleagues [16]    
  Swistowski and colleagues    
  [17]    
  Hargus and colleagues [37]    
  Nguyen and colleagues [38] Mutations in LRRK2 Increased expression of stress-response genes, increased α-SYNUCLEIN levels and oversensitivity to stress agents by dopaminergic neurons ND
  Seibler and colleagues [42] Mutations in PINK1 Impaired recruitment of Parkin to mitochondria, increased mitochondrial copy number, upregulation of PGC-1α in dopaminergic neurons Phenotype corrected by expression of wildtype PINK1
Rett syndrome Hotta and colleagues [57] Mutation in MECP2 Decreased synapse number, reduced spines, increased LINE1 retrotransposon mobility Increase in glutamatergic synapse number (IGF1); increase in MeCP2 protein increase in MeCP2 protein levels and glutamatergic synapse numbers (gentamicin)
  Marchetto and colleagues [15]    
  Muotri and colleagues [33]    
Schizophrenia Brennand and colleagues [47] Unknown Reduced neurite density, neuronal connectivity and glutamate receptor expression; altered gene expression of components of the cyclic AMP and WNT signaling pathways Increase in neuronal connectivity and glutamate receptor expression (loxapine)
  1. ND, not demonstrated; FMR1, fragile × mental retardation 1; HPRT1, hypoxanthine phosphoribosyltransferase 1; IGF1, insulin-like growth factor 1; IKBKAP, inhibitor of kappa light polypeptide gene enhancer in B cells, kinase complex-associated protein; iPS, induced pluripotent stem; LRRK2, leucinerich repeat kinase 2; MECP2, methyl CpG binding protein 2; PINK1, PTEN-induced putative kinase 1; SMA, spinal muscular atrophy; SMN, survival of motor neuron; SOD1, superoxide dismutase 1.