Odkritje novega gena za sindrom prezgodnjega staranja Karin Writzl, Aleš Maver, Borut Peterlin in Irena Lesjak Tiskovna konferenca 21 November 2017, Ljubljana Klinični inštitut za medicinsko genetiko Univerzitetni klinični center v Ljubljani @AlesMaver, ales.maver@kclj.si
Kako odkrijemo gen za bolezen??
Kaj je dedni zapis in kaj so geni? Človek
Človeško telo gradijo celice Človek Celice
V celičnem jedru je genetski zapis Človek Celice Kromosomi
Genetski zapis Človek Celice DNA (nukleinska kislina)
Večina dednega zapisa je med posamezniki enaka, razlike v zapisu pa so vzrok za naravno raznolikost
, včasih pa je sprememba v dednem zapisu vzrok za bolezen G
Genom človeka Približno 3 miljarde črk zapisa
Le 15% genov od 20.000 v našem genomu je bilo povezanih z genetskimi boleznimi 85% genov brez znane povezave z genetskimi bolenzimi Chong et al. 2015, AJHG 15% genov z znanimi povezavami z genetskimi boleznimi
Branje genoma v preteklosti
Branje genoma v preteklosti
Branje genoma v preteklosti
Branje genoma v preteklosti
Branje genoma v preteklosti
Branje genoma v preteklosti
Projekt človeški genom (2004) Za določitev zaporedja genoma prvih posameznikov je na prelomu tisočletja moralo sodelovati 20 inštitucij, preko 2000 znanstvenikov, s sredstvi preko 10 miljard dolarjev
? Ali lahko enako ponovimo tudi za naše paciente brez ugotovljenega vzroka oziroma brez diagnoze?
Video na voljo: youtube.com/user/illuminainc https://www.youtube.com/watch?v=pfzp5vgsbw0 Sekvenciranje nove generacije
Zdrava mati Zdrav oče Naš bolnik
Sekvenciranje zaporedja vseh genov v genomu Zdrava mati Zdrav oče GGCTGCTCAGGAAAGGCCAAAATGTTTGGAAAGACTACATGGAGCCAGCT GTAAAAAGCATGATTCAAACTGGTGCCAAACATCTAAGCTAGCTAAGCTG TAGGATACAATTTTTGCTTTATTTATAATTTTTTTTTTTCAATTAGGAAA CTGAGACTTAAGAATTTTCTCTAAAAAAAATAAAAACTGGAAAACAAGTA ATTTTAGAAACAAATATATATTTTTGATAGAAACTGTAAGTAAATATTCA GTACTACCAGAAATATACTATCTTCAACTCTCGGCTTTTTTCCAAAAGAT ACAGAATCATTTTTTGGAAAAGATACAAGATGTACAGACAAATCACATTC ATACCTTACAATTTAAATTCATAATGAACAATGAATATTTTCATATTTTC CAGAAGTTTGAAATTTCAAAGTTGTTAGCAAAATTATTCATTTCCATAAT TTTTACGAGTAAAAATAGAAAGAGCTGATCATGTACCTTAATATTGTCAC TTTATATATTACTCAAAAGTACAAATAACCCTAAAAGTAGAATCCCAGGC TTATCATATTATAAAAATACTGAGACATTTATCAAACATAACTAATATAA ATGAAACTACATTTTTAAAAATGTTTCACAAACACCAGTCCATCTTTCTC TTTGGTTCAGAAAATAAAAGAGGTAGGTTCAAATAAAGAAAATGCCTATT ACATCATTAGATTTTCATTAAAATGCTGGAAATTTATAACAGAAATTATT GGCTGCTCAGGAAAGGCCAAAATGTTTGGAAAGACTACATGGAGCCAGCT GTAAAAAGCATGATTCAAACTGGTGCCAAACATCTAAGCTAGCTAAGCTG TAGGATACAATTTTTGCTTTATTTATAATTTTTTTTTTTCAATTAGGAAA CTGAGACTTAAGAATTTTCTCTAAAAAAAATAAAAACTGGAAAACAAGTA ATTTTAGAAACAAATATATATTTTTGATAGAAACTGTAAGTAAATATTCA GTACTACCAGAAATATACTATCTTCAACTCTCGGCTTTTTTCCAAAAGAT ACAGAATCATTTTTTGGAAAAGATACAAGATGTACAGACAAATCACATTC ATACCTTACAATTTAAATTCATAATGAACAATGAATATTTTCATATTTTC CAGAAGTTTGAAATTTCAAAGTTGTTAGCAAAATTATTCATTTCCATAAT TTTTACGAGTAAAAATAGAAAGAGCTGATCATGTACCTTAATATTGTCAC TTTATATATTACTCAAAAGTACAAATAACCCTAAAAGTAGAATCCCAGGC TTATCATATTATAAAAATACTGAGACATTTATCAAACATAACTAATATAA ATGAAACTACATTTTTAAAAATGTTTCACAAACACCAGTCCATCTTTCTC TTTGGTTCAGAAAATAAAAGAGGTAGGTTCAAATAAAGAAAATGCCTATT ACATCATTAGATTTTCATTAAAATGCTGGAAATTTATAACAGAAATTATT Naš bolnik GGCTGCTCAGGAAAGGCCAAAATGTTTGGAAAGACTACATGGAGCCAGCT GTAAAAAGCATGATTCAAACTGGTGCCAAACATCTAAGCTAGCTAAGCTG TAGGATACAATTTTTGCTTTATTTATAATTTTTTTTTTTCAATTAGGAAA CTGAGACTTAAGAATTTTCTCTAAAAAAAATAAAAACTGGAAAACAAGTA ATTTTAGAAACAAATATATATTTTTGATAGAAACTGTAAGTAAATATTCA GTACTACCAGAAATATACTATCTTCAACTCTCGGCTTTTTTCCAAAAGAT ACAGAATCATTTTTTGGAAAAGATACAAGATGTACAGACAAATCACATTC ATACCTTACAATTTAAATTCATAATGAACAATGAATATTTTCATATTTTC CAGAAGTTTGAAATTTCAAAGTTGTTAGCAAAATTATTCATTTCCATAAT TTTTACGAGTAAAAATAGAAAGAGCTGATCATGTACCTTAATATTGTCAC TTTATATATTACTCAAAAGTACAAATAACCCTAAAAGTAGAATCCCAGGC TTATCATATTATAAAAATACTGAGACATTTATCAAACATAACTAATATAA ATGAAACTACATTTTTAAAAATGTTTCACAAACACCAGTCCATCTTTCTC TTTGGTTCAGAAAATAAAAGAGGTAGGTTCAAATAAAGAAAATGCCTATT ACATCATTAGATTTTCATTAAAATGCTGGAAATTTATAACAGAAATTATT
GGCTGCTCAGGAAAGGCCAAAATGTTTGGAAAGACTACATGGAGCCAGCT GTAAAAAGCATGATTCAAACTGGTGCCAAACATCTAAGCTAGCTAAGCTG TAGGATACAATTTTTGCTTTATTTATAATTTTTTTTTTTCAATTAGGAAA CTGAGACTTAAGAATTTTCTCTAAAAAAAATAAAAACTGGAAAACAAGTA ATTTTAGAAACAAATATATATTTTTGATAGAAACTGTAAGTAAATATTCA GTACTACCAGAAATATACTATCTTCAACTCTCGGCTTTTTTCCAAAAGAT ACAGAATCATTTTTTGGAAAAGATACAAGATGTACAGACAAATCACATTC ATACCTTACAATTTAAATTCATAATGAACAATGAATATTTTCATATTTTC CAGAAGTTTGAAATTTCAAAGTTGTTAGCAAAATTATTCATTTCCATAAT TTTTACGAGTAAAAATAGAAAGAGCTGATCATGTACCTTAATATTGTCAC TTTATATATTACTCAAAAGTACAAATAACCCTAAAAGTAGAATCCCAGGC TTATCATATTATAAAAATACTGAGACATTTATCAAACATAACTAATATAA ATGAAACTACATTTTTAAAAATGTTTCACAAACACCAGTCCATCTTTCTC TTTGGTTCAGAAAATAAAAGAGGTAGGTTCAAATAAAGAAAATGCCTATT ACATCATTAGATTTTCATTAAAATGCTGGAAATTTATAACAGAAATTATT GGCTGCTCAGGAAAGGCCAAAATGTTTGGAAAGACTACATGGAGCCAGCT GTAAAAAGCATGATTCAAACTGGTGCCAAACATCTAAGCTAGCTAAGCTG TAGGATACAATTTTTGCTTTATTTATAATTTTTTTTTTTCAATTAGGAAA CTGAGACTTAAGAATTTTCTCTAAAAAAAATAAAAACTGGAAAACAAGTA ATTTTAGAAACAAATATATATTTTTGATAGAAACTGTAAGTAAATATTCA GTACTACCAGAAATATACTATCTTCAACTCTCGGCTTTTTTCCAAAAGAT ACAGAATCATTTTTTGGAAAAGATACAAGATGTACAGACAAATCACATTC ATACCTTACAATTTAAATTCATAATGAACAATGAATATTTTCATATTTTC CAGAAGTTTGAAATTTCAAAGTTGTTAGCAAAATTATTCATTTCCATAAT TTTTACGAGTAAAAATAGAAAGAGCTGATCATGTACCTTAATATTGTCAC TTTATATATTACTCAAAAGTACAAATAACCCTAAAAGTAGAATCCCAGGC TTATCATATTATAAAAATACTGAGACATTTATCAAACATAACTAATATAA ATGAAACTACATTTTTAAAAATGTTTCACAAACACCAGTCCATCTTTCTC TTTGGTTCAGAAAATAAAAGAGGTAGGTTCAAATAAAGAAAATGCCTATT ACATCATTAGATTTTCATTAAAATGCTGGAAATTTATAACAGAAATTATT GGCTGCTCAGGAAAGGCCAAAATGTTTGGAAAGACTACATGGAGCCAGCT GTAAAAAGCATGATTCAAACTGGTGCCAAACATCTAAGCTAGCTAAGCTG TAGGATACAATTTTTGCTTTATTTATAATTTTTTTTTTTCAATTAGGAAA CTGAGACTTAAGAATTTTCTCTAAAAAAAATAAAAACTGGAAAACAAGTA ATTTTAGAAACAAATATATATTTTTGATAGAAACTGTAAGTAAATATTCA GTACTACCAGAAATATACTATCTTCAACTCTCGGCTTTTTTCCAAAAGAT ACAGAATCATTTTTTGGAAAAGATACAAGATGTACAGACAAATCACATTC ATACCTTACAATTTAAATTCATAATGAACAATGAATATTTTCATATTTTC CAGAAGTTTGAAATTTCAAAGTTGTTAGCAAAATTATTCATTTCCATAAT TTTTACGAGTAAAAATAGAAAGAGCTGATCATGTACCTTAATATTGTCAC TTTATATATTACTCAAAAGTACAAATAACCCTAAAAGTAGAATCCCAGGC TTATCATATTATAAAAATACTGAGACATTTATCAAACATAACTAATATAA ATGAAACTACATTTTTAAAAATGTTTCACAAACACCAGTCCATCTTTCTC TTTGGTTCAGAAAATAAAAGAGGTAGGTTCAAATAAAGAAAATGCCTATT ACATCATTAGATTTTCATTAAAATGCTGGAAATTTATAACAGAAATTATT GGCTGCTCAGGAAAGGCCAAAATGTTTGGAAAGACTACATGGAGCCAGCT GTAAAAAGCATGATTCAAACTGGTGCCAAACATCTAAGCTAGCTAAGCTG TAGGATACAATTTTTGCTTTATTTATAATTTTTTTTTTTCAATTAGGAAA CTGAGACTTAAGAATTTTCTCTAAAAAAAATAAAAACTGGAAAACAAGTA ATTTTAGAAACAAATATATATTTTTGATAGAAACTGTAAGTAAATATTCA GTACTACCAGAAATATACTATCTTCAACTCTCGGCTTTTTTCCAAAAGAT ACAGAATCATTTTTTGGAAAAGATACAAGATGTACAGACAAATCACATTC ATACCTTACAATTTAAATTCATAATGAACAATGAATATTTTCATATTTTC CAGAAGTTTGAAATTTCAAAGTTGTTAGCAAAATTATTCATTTCCATAAT TTTTACGAGTAAAAATAGAAAGAGCTGATCATGTACCTTAATATTGTCAC TTTATATATTACTCAAAAGTACAAATAACCCTAAAAGTAGAATCCCAGGC TTATCATATTATAAAAATACTGAGACATTTATCAAACATAACTAATATAA ATGAAACTACATTTTTAAAAATGTTTCACAAACACCAGTCCATCTTTCTC TTTGGTTCAGAAAATAAAAGAGGTAGGTTCAAATAAAGAAAATGCCTATT ACATCATTAGATTTTCATTAAAATGCTGGAAATTTATAACAGAAATTATT Primerjava zaporedja genov GGCTGCTCAGGAAAGGCCAAAATGTTTGGAAAGACTACATGGAGCCAGCT GTAAAAAGCATGATTCAAACTGGTGCCAAACATCTAAGCTAGCTAAGCTG TAGGATACAATTTTTGCTTTATTTATAATTTTTTTTTTTCAATTAGGAAA CTGAGACTTAAGAATTTTCTCTAAAAAAAATAAAAACTGGAAAACAAGTA ATTTTAGAAACAAATATATATTTTTGATAGAAACTGTAAGTAAATATTCA GTACTACCAGAAATATACTATCTTCAACTCTCGGCTTTTTTCCAAAAGAT ACAGAATCATTTTTTGGAAAAGATACAAGATGTACAGACAAATCACATTC ATACCTTACAATTTAAATTCATAATGAACAATGAATATTTTCATATTTTC CAGAAGTTTGAAATTTCAAAGTTGTTAGCAAAATTATTCATTTCCATAAT TTTTACGAGTAAAAATAGAAAGAGCTGATCATGTACCTTAATATTGTCAC TTTATATATTACTCAAAAGTACAAATAACCCTAAAAGTAGAATCCCAGGC TTATCATATTATAAAAATACTGAGACATTTATCAAACATAACTAATATAA ATGAAACTACATTTTTAAAAATGTTTCACAAACACCAGTCCATCTTTCTC TTTGGTTCAGAAAATAAAAGAGGTAGGTTCAAATAAAGAAAATGCCTATT ACATCATTAGATTTTCATTAAAATGCTGGAAATTTATAACAGAAATTATT GGCTGCTCAGGAAAGGCCAAAATGTTTGGAAAGACTACATGGAGCCAGCT GTAAAAAGCATGATTCAAACTGGTGCCAAACATCTAAGCTAGCTAAGCTG TAGGATACAATTTTTGCTTTATTTATAATTTTTTTTTTTCAATTAGGAAA CTGAGACTTAAGAATTTTCTCTAAAAAAAATAAAAACTGGAAAACAAGTA ATTTTAGAAACAAATATATATTTTTGATAGAAACTGTAAGTAAATATTCA GTACTACCAGAAATATACTATCTTCAACTCTCGGCTTTTTTCCAAAAGAT ACAGAATCATTTTTTGGAAAAGATACAAGATGTACAGACAAATCACATTC ATACCTTACAATTTAAATTCATAATGAACAATGAATATTTTCATATTTTC CAGAAGTTTGAAATTTCAAAGTTGTTAGCAAAATTATTCATTTCCATAAT TTTTACGAGTAAAAATAGAAAGAGCTGATCATGTACCTTAATATTGTCAC TTTATATATTACTCAAAAGTACAAATAACCCTAAAAGTAGAATCCCAGGC TTATCATATTATAAAAATACTGAGACATTTATCAAACATAACTAATATAA ATGAAACTACATTTTTAAAAATGTTTCACAAACACCAGTCCATCTTTCTC TTTGGTTCAGAAAATAAAAGAGGTAGGTTCAAATAAAGAAAATGCCTATT ACATCATTAGATTTTCATTAAAATGCTGGAAATTTATAACAGAAATTATT Zdrava mati Zdrav oče Naš bolnik
Francoski bolnik Naš bolnik Mednarodno povezovanje pri odkrivanju novega gena 26
Slovenska družina Francoska družina GGCTGCTCAGGAAAGGCCAAAATGTTTGGAAAGACTACATGGAGCCAGCT GGCTGCTCAGGAAAGGCCAAAATGTTTGGAAAGACTACATGGAGCCAGCT GTAAAAAGCATGATTCAAACTGGTGCCAAACATCTAAGCTAGCTAAGCTG GTAAAAAGCATGATTCAAACTGGTGCCAAACATCTAAGCTAGCTAAGCTG TAGGATACAATTTTTGCTTTATTTATAATTTTTTTTTTTCAATTAGGAAA TAGGATACAATTTTTGCTTTATTTATAATTTTTTTTTTTCAATTAGGAAA CTGAGACTTAAGAATTTTCTCTAAAAAAAATAAAAACTGGAAAACAAGTA CTGAGACTTAAGAATTTTCTCTAAAAAAAATAAAAACTGGAAAACAAGTA ATTTTAGAAACAAATATATATTTTTGATAGAAACTGTAAGTAAATATTCA ATTTTAGAAACAAATATATATTTTTGATAGAAACTGTAAGTAAATATTCA GTACTACCAGAAATATACTATCTTCAACTCTCGGCTTTTTTCCAAAAGAT GTACTACCAGAAATATACTATCTTCAACTCTCGGCTTTTTTCCAAAAGAT ACAGAATCATTTTTTGGAAAAGATACAAGATGTACAGACAAATCACATTC ACAGAATCATTTTTTGGAAAAGATACAAGATGTACAGACAAATCACATTC ATACCTTACAATTTAAATTCATAATGAACAATGAATATTTTCATATTTTC ATACCTTACAATTTAAATTCATAATGAACAATGAATATTTTCATATTTTC CAGAAGTTTGAAATTTCAAAGTTGTTAGCAAAATTATTCATTTCCATAAT CAGAAGTTTGAAATTTCAAAGTTGTTAGCAAAATTATTCATTTCCATAAT TTTTACGAGTAAAAATAGAAAGAGCTGATCATGTACCTTAATATTGTCAC TTTTACGAGTAAAAATAGAAAGAGCTGATCATGTACCTTAATATTGTCAC TTTATATATTACTCAAAAGTACAAATAACCCTAAAAGTAGAATCCCAGGC TTTATATATTACTCAAAAGTACAAATAACCCTAAAAGTAGAATCCCAGGC TTATCATATTATAAAAATACTGAGACATTTATCAAACATAACTAATATAA TTATCATATTATAAAAATACTGAGACATTTATCAAACATAACTAATATAA ATGAAACTACATTTTTAAAAATGTTTCACAAACACCAGTCCATCTTTCTC ATGAAACTACATTTTTAAAAATGTTTCACAAACACCAGTCCATCTTTCTC TTTGGTTCAGAAAATAAAAGAGGTAGGTTCAAATAAAGAAAATGCCTATT TTTGGTTCAGAAAATAAAAGAGGTAGGTTCAAATAAAGAAAATGCCTATT ACATCATTAGATTTTCATTAAAATGCTGGAAATTTATAACAGAAATTATT ACATCATTAGATTTTCATTAAAATGCTGGAAATTTATAACAGAAATTATT
Slovenska družina Francoska družina GGCTGCTCAGGAAAGGCCAAAATGTTTGGAAAGACTACATGGAGCCAGCT GGCTGCTCAGGAAAGGCCAAAATGTTTGGAAAGACTACATGGAGCCAGCT GGCTGCTCAGGAAAGGCCAAAATGTTTGGAAAGACTACATGGAGCCAGCT GTAAAAAGCATGATTCAAACTGGTGCCAAACATCTAAGCTAGCTAAGCTG GTAAAAAGCATGATTCAAACTGGTGCCAAACATCTAAGCTAGCTAAGCTG GTAAAAAGCATGATTCAAACTGGTGCCAAACATCTAAGCTAGCTAAGCTG TAGGATACAATTTTTGCTTTATTTATAATTTTTTTTTTTCAATTAGGAAA TAGGATACAATTTTTGCTTTATTTATAATTTTTTTTTTTCAATTAGGAAA TAGGATACAATTTTTGCTTTATTTATAATTTTTTTTTTTCAATTAGGAAA CTGAGACTTAAGAATTTTCTCTAAAAAAAATAAAAACTGGAAAACAAGTA CTGAGACTTAAGAATTTTCTCTAAAAAAAATAAAAACTGGAAAACAAGTA CTGAGACTTAAGAATTTTCTCTAAAAAAAATAAAAACTGGAAAACAAGTA ATTTTAGAAACAAATATATATTTTTGATAGAAACTGTAAGTAAATATTCA ATTTTAGAAACAAATATATATTTTTGATAGAAACTGTAAGTAAATATTCA ATTTTAGAAACAAATATATATTTTTGATAGAAACTGTAAGTAAATATTCA GTACTACCAGAAATATACTATCTTCAACTCTCGGCTTTTTTCCAAAAGAT GTACTACCAGAAATATACTATCTTCAACTCTCGGCTTTTTTCCAAAAGAT GTACTACCAGAAATATACTATCTTCAACTCTCGGCTTTTTTCCAAAAGAT ACAGAATCATTTTTTGGAAAAGATACAAGATGTACAGACAAATCACATTC ACAGAATCATTTTTTGGAAAAGATACAAGATGTACAGACAAATCACATTC ACAGAATCATTTTTTGGAAAAGATACAAGATGTACAGACAAATCACATTC ATACCTTACAATTTAAATTCATAATGAACAATGAATATTTTCATATTTTC ATACCTTACAATTTAAATTCATAATGAACAATGAATATTTTCATATTTTC ATACCTTACAATTTAAATTCATAATGAACAATGAATATTTTCATATTTTC CAGAAGTTTGAAATTTCAAAGTTGTTAGCAAAATTATTCATTTCCATAAT CAGAAGTTTGAAATTTCAAAGTTGTTAGCAAAATTATTCATTTCCATAAT CAGAAGTTTGAAATTTCAAAGTTGTTAGCAAAATTATTCATTTCCATAAT TTTTACGAGTAAAAATAGAAAGAGCTGATCATGTACCTTAATATTGTCAC TTTTACGAGTAAAAATAGAAAGAGCTGATCATGTACCTTAATATTGTCAC TTTTACGAGTAAAAATAGAAAGAGCTGATCATGTACCTTAATATTGTCAC TTTATATATTACTCAAAAGTACAAATAACCCTAAAAGTAGAATCCCAGGC TTTATATATTACTCAAAAGTACAAATAACCCTAAAAGTAGAATCCCAGGC TTTATATATTACTCAAAAGTACAAATAACCCTAAAAGTAGAATCCCAGGC TTATCATATTATAAAAATACTGAGACATTTATCAAACATAACTAATATAA TTATCATATTATAAAAATACTGAGACATTTATCAAACATAACTAATATAA TTATCATATTATAAAAATACTGAGACATTTATCAAACATAACTAATATAA ATGAAACTACATTTTTAAAAATGTTTCACAAACACCAGTCCATCTTTCTC ATGAAACTACATTTTTAAAAATGTTTCACAAACACCAGTCCATCTTTCTC ATGAAACTACATTTTTAAAAATGTTTCACAAACACCAGTCCATCTTTCTC TTTGGTTCAGAAAATAAAAGAGGTAGGTTCAAATAAAGAAAATGCCTATT TTTGGTTCAGAAAATAAAAGAGGTAGGTTCAAATAAAGAAAATGCCTATT TTTGGTTCAGAAAATAAAAGAGGTAGGTTCAAATAAAGAAAATGCCTATT ACATCATTAGATTTTCATTAAAATGCTGGAAATTTATAACAGAAATTATT ACATCATTAGATTTTCATTAAAATGCTGGAAATTTATAACAGAAATTATT ACATCATTAGATTTTCATTAAAATGCTGGAAATTTATAACAGAAATTATT
Slovenska družina Francoska družina Bolnik Mama Oče 29 SLC25A24 p.arg217his SLC25A24 p.arg217his
Francoski bolnik Naš bolnik Španski bolnik Mednarodno povezovanje pri odkrivanju novega gena 30
Francoski bolnik Naš bolnik Španski bolnik Mednarodno povezovanje pri odkrivanju novega gena 31
Francoski bolnik Naš bolnik Španski bolnik Italijanski bolnik Mednarodno povezovanje pri odkrivanju novega gena 32
All patients shared de novo variants affecting Arg217 residue in SLC25A24 protein Slovenian family wt/wt GACGG P Arg217His/wt wt/wt GACGG French family wt/wt wt/wt GACGG GACGG P Arg217His/wt GAY C/T GG Spanish family* * results from single base extension assay GAY C/T GG Italian family wt/wt wt/wt wt/wt wt/wt G A G A GACGG GACGG P Arg217Cys/wt P Arg217His/wt G A GAY C/T GG Writzl et al, AJHG P denotes familial proband denotes sample availability for testing 33
Model strukture beljakovine SLC25A24 Dr. Lidija Kovačič
Model strukture beljakovine SLC25A24 Dr. Lidija Kovačič
Model strukture beljakovine SLC25A24 Dr. Lidija Kovačič
Količina in lokacija beljakovine SLC25A24 Dr. Jorgina Satrustegui
Vpliv mutacije gena SLC25A24 na obliko mitohondrijev Dr. Jorgina Satrustegui
Vpliv mutacije gena SLC25A24 na delitev celic Dr. Jorgina Satrustegui