Kinase Inhibitors in Genetic Diseases
Abstract
:1. Introduction
2. Tuberous Sclerosis Complex
2.1. Clinical Manifestation
2.2. Genetics of TSC
2.3. Inhibition of mTOR
3. RASopathies
3.1. Clinical Manifestation
3.2. Neurofibromatosis
3.3. Noonan Syndrome
3.4. Genetics of RASopathies
Disease | Mutated Genes |
---|---|
Neurofibromatosis type 1 (NF1) | NF1 [98,99,100,101] |
Noonan syndrome (NS) | PTPN11 [81,82] SOS1 [84,85] KRAS [86,87] BRAF [88] SHOC2 [89] CBL [90] |
Noonan syndrome with multiple lentigines (NSML) | PTPN11 [102] |
Costello syndrome (CS) | HRAS [92,93] |
Cardio-facio-cutaneous syndorme (CFC) | BRAF [94] MAP2K1(MEK1) [95] MAP2K2(MEK2) [95] |
Legius Syndrome | SPRED1 [97] |
3.5. Inibition of RAS Downstream Targets
4. Ciliopathies
4.1. Clinical Manifestation
Syndrome | Gene Involved |
---|---|
Joubert syndrome | INPP5E [133], ARL13B [134], CC2D2A [135], RPGRIP1L [136], TMEM67 [137], NPHP1 [138], AHI1 [139], CEP290 [140], CXORF5 [141], and TMEM216 [142]. |
Meckel–Gruber syndrome | MKS1 [143], MKS3 (TMEM67) [144], CEP290 [137], RPGRIP1L [136], CC2D2A [145], and TMEM216 [142] |
Senior–Løken syndrome | CEP290 (also known as NPHP6 and MKS4) [140], NPHP1 [146], NPHP3 [147], NPHP4 [148], and NPHP5 (also known as IQCB1) [149]. |
Type 1 orofacial syndrome | OFD1 [150] |
Leber’s congenital amaurosis | GUCY2D [151], RPE65 [152], SPATA7 [153], AIPL1 [154], LCA5 [155], RPGRIPL1 [156], CRX [157], CRB1 [158], IMPD1 [159], RD3 [160], CEP290 [140], NPHP5 [149], and RDH12 [161]. |
Bardet–Biedl syndrome | BBS1 [162], BBS2 [163], ARL6/BBS3 [164], BBS4 [165], BBS5 [166], MKKS/BBS6 [167], BBS7 [168], TTC8/BBS8 [169], B1/BBS9 [170], BBS10 [171], TRIM32/BBS11 [172], BBS12 [173], MKS1/BBS13 [174], CEP290/BBS14 [174], C2ORF86/FRITZ/BBS15 [175], and SDCCAG8/BBS16 [176] |
Alström syndrome | ALMS1 [177] |
Jeune asphyxiating thoracic dystrophy | IFT [178] |
Rhyns syndrome | TMEM67 [132] |
4.2. The Genetics of Ciliopathies
4.3. Inibition of TRPV4 and SGK1
5. Discussion
6. Conclusions
Funding
Conflicts of Interest
References
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D’Antona, L.; Amato, R.; Brescia, C.; Rocca, V.; Colao, E.; Iuliano, R.; Blazer-Yost, B.L.; Perrotti, N. Kinase Inhibitors in Genetic Diseases. Int. J. Mol. Sci. 2023, 24, 5276. https://doi.org/10.3390/ijms24065276
D’Antona L, Amato R, Brescia C, Rocca V, Colao E, Iuliano R, Blazer-Yost BL, Perrotti N. Kinase Inhibitors in Genetic Diseases. International Journal of Molecular Sciences. 2023; 24(6):5276. https://doi.org/10.3390/ijms24065276
Chicago/Turabian StyleD’Antona, Lucia, Rosario Amato, Carolina Brescia, Valentina Rocca, Emma Colao, Rodolfo Iuliano, Bonnie L. Blazer-Yost, and Nicola Perrotti. 2023. "Kinase Inhibitors in Genetic Diseases" International Journal of Molecular Sciences 24, no. 6: 5276. https://doi.org/10.3390/ijms24065276