odkritje novega gena za sindrom prezgodnjega staranja · tiskovna konferenca 21 november 2017,...

Tiskovna konferenca21 November 2017, Ljubljana

Odkritje novega gena za sindrom prezgodnjega staranja

Klinični inštitut za medicinsko genetiko Univerzitetni klinični center v Ljubljani

Karin Writzl, Aleš Maver, Borut Peterlin in Irena Lesjak

@AlesMaver, ales.maver@kclj.si

Kako odkrijemo gen za bolezen?

?

Človek

Kaj je dedni zapis in kaj so geni?

Človek Celice

Človeško telo gradijo celice

KromosomiČlovek Celice

V celičnem jedru je genetski zapis

DNA (nukleinska kislina)

Človek Celice

Genetski zapis

Večina dednega zapisa je med posamezniki enaka, razlike v zapisu pa so vzrok za naravno raznolikost…

G

…, včasih pa je sprememba v dednem zapisu vzrok za bolezen

Genom človekaPribližno 3 miljarde “črk” zapisa

Le 15% genov od 20.000 v našem genomu je bilo povezanih z genetskimi boleznimi

15% genov z znanimi povezavami z genetskimi boleznimi

85%genov brez znane povezave z genetskimi bolenzimi

Chong et al. 2015, AJHG

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

Sekvenciranje nove generacije

https://www.youtube.com/watch?v=pfZp5Vgsbw0

Zdrava mati Zdrav oče

Naš bolnik

GGCTGCTCAGGAAAGGCCAAAATGTTTGGAAAGACTACATGGAGCCAGCTGTAAAAAGCATGATTCAAACTGGTGCCAAACATCTAAGCTAGCTAAGCTGTAGGATACAATTTTTGCTTTATTTATAATTTTTTTTTTTCAATTAGGAAACTGAGACTTAAGAATTTTCTCTAAAAAAAATAAAAACTGGAAAACAAGTAATTTTAGAAACAAATATATATTTTTGATAGAAACTGTAAGTAAATATTCAGTACTACCAGAAATATACTATCTTCAACTCTCGGCTTTTTTCCAAAAGATACAGAATCATTTTTTGGAAAAGATACAAGATGTACAGACAAATCACATTCATACCTTACAATTTAAATTCATAATGAACAATGAATATTTTCATATTTTCCAGAAGTTTGAAATTTCAAAGTTGTTAGCAAAATTATTCATTTCCATAATTTTTACGAGTAAAAATAGAAAGAGCTGATCATGTACCTTAATATTGTCACTTTATATATTACTCAAAAGTACAAATAACCCTAAAAGTAGAATCCCAGGCTTATCATATTATAAAAATACTGAGACATTTATCAAACATAACTAATATAAATGAAACTACATTTTTAAAAATGTTTCACAAACACCAGTCCATCTTTCTCTTTGGTTCAGAAAATAAAAGAGGTAGGTTCAAATAAAGAAAATGCCTATTACATCATTAGATTTTCATTAAAATGCTGGAAATTTATAACAGAAATTATT

Sekvenciranje zaporedja vseh genov v genomu

GGCTGCTCAGGAAAGGCCAAAATGTTTGGAAAGACTACATGGAGCCAGCTGTAAAAAGCATGATTCAAACTGGTGCCAAACATCTAAGCTAGCTAAGCTGTAGGATACAATTTTTGCTTTATTTATAATTTTTTTTTTTCAATTAGGAAACTGAGACTTAAGAATTTTCTCTAAAAAAAATAAAAACTGGAAAACAAGTAATTTTAGAAACAAATATATATTTTTGATAGAAACTGTAAGTAAATATTCAGTACTACCAGAAATATACTATCTTCAACTCTCGGCTTTTTTCCAAAAGATACAGAATCATTTTTTGGAAAAGATACAAGATGTACAGACAAATCACATTCATACCTTACAATTTAAATTCATAATGAACAATGAATATTTTCATATTTTCCAGAAGTTTGAAATTTCAAAGTTGTTAGCAAAATTATTCATTTCCATAATTTTTACGAGTAAAAATAGAAAGAGCTGATCATGTACCTTAATATTGTCACTTTATATATTACTCAAAAGTACAAATAACCCTAAAAGTAGAATCCCAGGCTTATCATATTATAAAAATACTGAGACATTTATCAAACATAACTAATATAAATGAAACTACATTTTTAAAAATGTTTCACAAACACCAGTCCATCTTTCTCTTTGGTTCAGAAAATAAAAGAGGTAGGTTCAAATAAAGAAAATGCCTATTACATCATTAGATTTTCATTAAAATGCTGGAAATTTATAACAGAAATTATT

GGCTGCTCAGGAAAGGCCAAAATGTTTGGAAAGACTACATGGAGCCAGCTGTAAAAAGCATGATTCAAACTGGTGCCAAACATCTAAGCTAGCTAAGCTGTAGGATACAATTTTTGCTTTATTTATAATTTTTTTTTTTCAATTAGGAAACTGAGACTTAAGAATTTTCTCTAAAAAAAATAAAAACTGGAAAACAAGTAATTTTAGAAACAAATATATATTTTTGATAGAAACTGTAAGTAAATATTCAGTACTACCAGAAATATACTATCTTCAACTCTCGGCTTTTTTCCAAAAGATACAGAATCATTTTTTGGAAAAGATACAAGATGTACAGACAAATCACATTCATACCTTACAATTTAAATTCATAATGAACAATGAATATTTTCATATTTTCCAGAAGTTTGAAATTTCAAAGTTGTTAGCAAAATTATTCATTTCCATAATTTTTACGAGTAAAAATAGAAAGAGCTGATCATGTACCTTAATATTGTCACTTTATATATTACTCAAAAGTACAAATAACCCTAAAAGTAGAATCCCAGGCTTATCATATTATAAAAATACTGAGACATTTATCAAACATAACTAATATAAATGAAACTACATTTTTAAAAATGTTTCACAAACACCAGTCCATCTTTCTCTTTGGTTCAGAAAATAAAAGAGGTAGGTTCAAATAAAGAAAATGCCTATTACATCATTAGATTTTCATTAAAATGCTGGAAATTTATAACAGAAATTATT

Zdrava mati Zdrav oče

Naš bolnik

GGCTGCTCAGGAAAGGCCAAAATGTTTGGAAAGACTACATGGAGCCAGCTGTAAAAAGCATGATTCAAACTGGTGCCAAACATCTAAGCTAGCTAAGCTGTAGGATACAATTTTTGCTTTATTTATAATTTTTTTTTTTCAATTAGGAAACTGAGACTTAAGAATTTTCTCTAAAAAAAATAAAAACTGGAAAACAAGTAATTTTAGAAACAAATATATATTTTTGATAGAAACTGTAAGTAAATATTCAGTACTACCAGAAATATACTATCTTCAACTCTCGGCTTTTTTCCAAAAGATACAGAATCATTTTTTGGAAAAGATACAAGATGTACAGACAAATCACATTCATACCTTACAATTTAAATTCATAATGAACAATGAATATTTTCATATTTTCCAGAAGTTTGAAATTTCAAAGTTGTTAGCAAAATTATTCATTTCCATAATTTTTACGAGTAAAAATAGAAAGAGCTGATCATGTACCTTAATATTGTCACTTTATATATTACTCAAAAGTACAAATAACCCTAAAAGTAGAATCCCAGGCTTATCATATTATAAAAATACTGAGACATTTATCAAACATAACTAATATAAATGAAACTACATTTTTAAAAATGTTTCACAAACACCAGTCCATCTTTCTCTTTGGTTCAGAAAATAAAAGAGGTAGGTTCAAATAAAGAAAATGCCTATTACATCATTAGATTTTCATTAAAATGCTGGAAATTTATAACAGAAATTATT

GGCTGCTCAGGAAAGGCCAAAATGTTTGGAAAGACTACATGGAGCCAGCTGTAAAAAGCATGATTCAAACTGGTGCCAAACATCTAAGCTAGCTAAGCTGTAGGATACAATTTTTGCTTTATTTATAATTTTTTTTTTTCAATTAGGAAACTGAGACTTAAGAATTTTCTCTAAAAAAAATAAAAACTGGAAAACAAGTAATTTTAGAAACAAATATATATTTTTGATAGAAACTGTAAGTAAATATTCAGTACTACCAGAAATATACTATCTTCAACTCTCGGCTTTTTTCCAAAAGATACAGAATCATTTTTTGGAAAAGATACAAGATGTACAGACAAATCACATTCATACCTTACAATTTAAATTCATAATGAACAATGAATATTTTCATATTTTCCAGAAGTTTGAAATTTCAAAGTTGTTAGCAAAATTATTCATTTCCATAATTTTTACGAGTAAAAATAGAAAGAGCTGATCATGTACCTTAATATTGTCACTTTATATATTACTCAAAAGTACAAATAACCCTAAAAGTAGAATCCCAGGCTTATCATATTATAAAAATACTGAGACATTTATCAAACATAACTAATATAAATGAAACTACATTTTTAAAAATGTTTCACAAACACCAGTCCATCTTTCTCTTTGGTTCAGAAAATAAAAGAGGTAGGTTCAAATAAAGAAAATGCCTATTACATCATTAGATTTTCATTAAAATGCTGGAAATTTATAACAGAAATTATT

GGCTGCTCAGGAAAGGCCAAAATGTTTGGAAAGACTACATGGAGCCAGCTGTAAAAAGCATGATTCAAACTGGTGCCAAACATCTAAGCTAGCTAAGCTGTAGGATACAATTTTTGCTTTATTTATAATTTTTTTTTTTCAATTAGGAAACTGAGACTTAAGAATTTTCTCTAAAAAAAATAAAAACTGGAAAACAAGTAATTTTAGAAACAAATATATATTTTTGATAGAAACTGTAAGTAAATATTCAGTACTACCAGAAATATACTATCTTCAACTCTCGGCTTTTTTCCAAAAGATACAGAATCATTTTTTGGAAAAGATACAAGATGTACAGACAAATCACATTCATACCTTACAATTTAAATTCATAATGAACAATGAATATTTTCATATTTTCCAGAAGTTTGAAATTTCAAAGTTGTTAGCAAAATTATTCATTTCCATAATTTTTACGAGTAAAAATAGAAAGAGCTGATCATGTACCTTAATATTGTCACTTTATATATTACTCAAAAGTACAAATAACCCTAAAAGTAGAATCCCAGGCTTATCATATTATAAAAATACTGAGACATTTATCAAACATAACTAATATAAATGAAACTACATTTTTAAAAATGTTTCACAAACACCAGTCCATCTTTCTCTTTGGTTCAGAAAATAAAAGAGGTAGGTTCAAATAAAGAAAATGCCTATTACATCATTAGATTTTCATTAAAATGCTGGAAATTTATAACAGAAATTATT

GGCTGCTCAGGAAAGGCCAAAATGTTTGGAAAGACTACATGGAGCCAGCTGTAAAAAGCATGATTCAAACTGGTGCCAAACATCTAAGCTAGCTAAGCTGTAGGATACAATTTTTGCTTTATTTATAATTTTTTTTTTTCAATTAGGAAACTGAGACTTAAGAATTTTCTCTAAAAAAAATAAAAACTGGAAAACAAGTAATTTTAGAAACAAATATATATTTTTGATAGAAACTGTAAGTAAATATTCAGTACTACCAGAAATATACTATCTTCAACTCTCGGCTTTTTTCCAAAAGATACAGAATCATTTTTTGGAAAAGATACAAGATGTACAGACAAATCACATTCATACCTTACAATTTAAATTCATAATGAACAATGAATATTTTCATATTTTCCAGAAGTTTGAAATTTCAAAGTTGTTAGCAAAATTATTCATTTCCATAATTTTTACGAGTAAAAATAGAAAGAGCTGATCATGTACCTTAATATTGTCACTTTATATATTACTCAAAAGTACAAATAACCCTAAAAGTAGAATCCCAGGCTTATCATATTATAAAAATACTGAGACATTTATCAAACATAACTAATATAAATGAAACTACATTTTTAAAAATGTTTCACAAACACCAGTCCATCTTTCTCTTTGGTTCAGAAAATAAAAGAGGTAGGTTCAAATAAAGAAAATGCCTATTACATCATTAGATTTTCATTAAAATGCTGGAAATTTATAACAGAAATTATT

Primerjava zaporedja genov

GGCTGCTCAGGAAAGGCCAAAATGTTTGGAAAGACTACATGGAGCCAGCTGTAAAAAGCATGATTCAAACTGGTGCCAAACATCTAAGCTAGCTAAGCTGTAGGATACAATTTTTGCTTTATTTATAATTTTTTTTTTTCAATTAGGAAACTGAGACTTAAGAATTTTCTCTAAAAAAAATAAAAACTGGAAAACAAGTAATTTTAGAAACAAATATATATTTTTGATAGAAACTGTAAGTAAATATTCAGTACTACCAGAAATATACTATCTTCAACTCTCGGCTTTTTTCCAAAAGATACAGAATCATTTTTTGGAAAAGATACAAGATGTACAGACAAATCACATTCATACCTTACAATTTAAATTCATAATGAACAATGAATATTTTCATATTTTCCAGAAGTTTGAAATTTCAAAGTTGTTAGCAAAATTATTCATTTCCATAATTTTTACGAGTAAAAATAGAAAGAGCTGATCATGTACCTTAATATTGTCACTTTATATATTACTCAAAAGTACAAATAACCCTAAAAGTAGAATCCCAGGCTTATCATATTATAAAAATACTGAGACATTTATCAAACATAACTAATATAAATGAAACTACATTTTTAAAAATGTTTCACAAACACCAGTCCATCTTTCTCTTTGGTTCAGAAAATAAAAGAGGTAGGTTCAAATAAAGAAAATGCCTATTACATCATTAGATTTTCATTAAAATGCTGGAAATTTATAACAGAAATTATT

GGCTGCTCAGGAAAGGCCAAAATGTTTGGAAAGACTACATGGAGCCAGCTGTAAAAAGCATGATTCAAACTGGTGCCAAACATCTAAGCTAGCTAAGCTGTAGGATACAATTTTTGCTTTATTTATAATTTTTTTTTTTCAATTAGGAAACTGAGACTTAAGAATTTTCTCTAAAAAAAATAAAAACTGGAAAACAAGTAATTTTAGAAACAAATATATATTTTTGATAGAAACTGTAAGTAAATATTCAGTACTACCAGAAATATACTATCTTCAACTCTCGGCTTTTTTCCAAAAGATACAGAATCATTTTTTGGAAAAGATACAAGATGTACAGACAAATCACATTCATACCTTACAATTTAAATTCATAATGAACAATGAATATTTTCATATTTTCCAGAAGTTTGAAATTTCAAAGTTGTTAGCAAAATTATTCATTTCCATAATTTTTACGAGTAAAAATAGAAAGAGCTGATCATGTACCTTAATATTGTCACTTTATATATTACTCAAAAGTACAAATAACCCTAAAAGTAGAATCCCAGGCTTATCATATTATAAAAATACTGAGACATTTATCAAACATAACTAATATAAATGAAACTACATTTTTAAAAATGTTTCACAAACACCAGTCCATCTTTCTCTTTGGTTCAGAAAATAAAAGAGGTAGGTTCAAATAAAGAAAATGCCTATTACATCATTAGATTTTCATTAAAATGCTGGAAATTTATAACAGAAATTATT

Zdrava mati Zdrav oče

Naš bolnik

26

Mednarodno povezovanje pri odkrivanju novega gena

Francoski bolnik Naš bolnik

GGCTGCTCAGGAAAGGCCAAAATGTTTGGAAAGACTACATGGAGCCAGCTGTAAAAAGCATGATTCAAACTGGTGCCAAACATCTAAGCTAGCTAAGCTGTAGGATACAATTTTTGCTTTATTTATAATTTTTTTTTTTCAATTAGGAAACTGAGACTTAAGAATTTTCTCTAAAAAAAATAAAAACTGGAAAACAAGTAATTTTAGAAACAAATATATATTTTTGATAGAAACTGTAAGTAAATATTCAGTACTACCAGAAATATACTATCTTCAACTCTCGGCTTTTTTCCAAAAGATACAGAATCATTTTTTGGAAAAGATACAAGATGTACAGACAAATCACATTCATACCTTACAATTTAAATTCATAATGAACAATGAATATTTTCATATTTTCCAGAAGTTTGAAATTTCAAAGTTGTTAGCAAAATTATTCATTTCCATAATTTTTACGAGTAAAAATAGAAAGAGCTGATCATGTACCTTAATATTGTCACTTTATATATTACTCAAAAGTACAAATAACCCTAAAAGTAGAATCCCAGGCTTATCATATTATAAAAATACTGAGACATTTATCAAACATAACTAATATAAATGAAACTACATTTTTAAAAATGTTTCACAAACACCAGTCCATCTTTCTCTTTGGTTCAGAAAATAAAAGAGGTAGGTTCAAATAAAGAAAATGCCTATTACATCATTAGATTTTCATTAAAATGCTGGAAATTTATAACAGAAATTATT

Slovenska družina Francoska družina

GGCTGCTCAGGAAAGGCCAAAATGTTTGGAAAGACTACATGGAGCCAGCTGTAAAAAGCATGATTCAAACTGGTGCCAAACATCTAAGCTAGCTAAGCTGTAGGATACAATTTTTGCTTTATTTATAATTTTTTTTTTTCAATTAGGAAACTGAGACTTAAGAATTTTCTCTAAAAAAAATAAAAACTGGAAAACAAGTAATTTTAGAAACAAATATATATTTTTGATAGAAACTGTAAGTAAATATTCAGTACTACCAGAAATATACTATCTTCAACTCTCGGCTTTTTTCCAAAAGATACAGAATCATTTTTTGGAAAAGATACAAGATGTACAGACAAATCACATTCATACCTTACAATTTAAATTCATAATGAACAATGAATATTTTCATATTTTCCAGAAGTTTGAAATTTCAAAGTTGTTAGCAAAATTATTCATTTCCATAATTTTTACGAGTAAAAATAGAAAGAGCTGATCATGTACCTTAATATTGTCACTTTATATATTACTCAAAAGTACAAATAACCCTAAAAGTAGAATCCCAGGCTTATCATATTATAAAAATACTGAGACATTTATCAAACATAACTAATATAAATGAAACTACATTTTTAAAAATGTTTCACAAACACCAGTCCATCTTTCTCTTTGGTTCAGAAAATAAAAGAGGTAGGTTCAAATAAAGAAAATGCCTATTACATCATTAGATTTTCATTAAAATGCTGGAAATTTATAACAGAAATTATT

GGCTGCTCAGGAAAGGCCAAAATGTTTGGAAAGACTACATGGAGCCAGCTGTAAAAAGCATGATTCAAACTGGTGCCAAACATCTAAGCTAGCTAAGCTGTAGGATACAATTTTTGCTTTATTTATAATTTTTTTTTTTCAATTAGGAAACTGAGACTTAAGAATTTTCTCTAAAAAAAATAAAAACTGGAAAACAAGTAATTTTAGAAACAAATATATATTTTTGATAGAAACTGTAAGTAAATATTCAGTACTACCAGAAATATACTATCTTCAACTCTCGGCTTTTTTCCAAAAGATACAGAATCATTTTTTGGAAAAGATACAAGATGTACAGACAAATCACATTCATACCTTACAATTTAAATTCATAATGAACAATGAATATTTTCATATTTTCCAGAAGTTTGAAATTTCAAAGTTGTTAGCAAAATTATTCATTTCCATAATTTTTACGAGTAAAAATAGAAAGAGCTGATCATGTACCTTAATATTGTCACTTTATATATTACTCAAAAGTACAAATAACCCTAAAAGTAGAATCCCAGGCTTATCATATTATAAAAATACTGAGACATTTATCAAACATAACTAATATAAATGAAACTACATTTTTAAAAATGTTTCACAAACACCAGTCCATCTTTCTCTTTGGTTCAGAAAATAAAAGAGGTAGGTTCAAATAAAGAAAATGCCTATTACATCATTAGATTTTCATTAAAATGCTGGAAATTTATAACAGAAATTATT

Slovenska družina Francoska družina

GGCTGCTCAGGAAAGGCCAAAATGTTTGGAAAGACTACATGGAGCCAGCTGTAAAAAGCATGATTCAAACTGGTGCCAAACATCTAAGCTAGCTAAGCTGTAGGATACAATTTTTGCTTTATTTATAATTTTTTTTTTTCAATTAGGAAACTGAGACTTAAGAATTTTCTCTAAAAAAAATAAAAACTGGAAAACAAGTAATTTTAGAAACAAATATATATTTTTGATAGAAACTGTAAGTAAATATTCAGTACTACCAGAAATATACTATCTTCAACTCTCGGCTTTTTTCCAAAAGATACAGAATCATTTTTTGGAAAAGATACAAGATGTACAGACAAATCACATTCATACCTTACAATTTAAATTCATAATGAACAATGAATATTTTCATATTTTCCAGAAGTTTGAAATTTCAAAGTTGTTAGCAAAATTATTCATTTCCATAATTTTTACGAGTAAAAATAGAAAGAGCTGATCATGTACCTTAATATTGTCACTTTATATATTACTCAAAAGTACAAATAACCCTAAAAGTAGAATCCCAGGCTTATCATATTATAAAAATACTGAGACATTTATCAAACATAACTAATATAAATGAAACTACATTTTTAAAAATGTTTCACAAACACCAGTCCATCTTTCTCTTTGGTTCAGAAAATAAAAGAGGTAGGTTCAAATAAAGAAAATGCCTATTACATCATTAGATTTTCATTAAAATGCTGGAAATTTATAACAGAAATTATT

GGCTGCTCAGGAAAGGCCAAAATGTTTGGAAAGACTACATGGAGCCAGCTGTAAAAAGCATGATTCAAACTGGTGCCAAACATCTAAGCTAGCTAAGCTGTAGGATACAATTTTTGCTTTATTTATAATTTTTTTTTTTCAATTAGGAAACTGAGACTTAAGAATTTTCTCTAAAAAAAATAAAAACTGGAAAACAAGTAATTTTAGAAACAAATATATATTTTTGATAGAAACTGTAAGTAAATATTCAGTACTACCAGAAATATACTATCTTCAACTCTCGGCTTTTTTCCAAAAGATACAGAATCATTTTTTGGAAAAGATACAAGATGTACAGACAAATCACATTCATACCTTACAATTTAAATTCATAATGAACAATGAATATTTTCATATTTTCCAGAAGTTTGAAATTTCAAAGTTGTTAGCAAAATTATTCATTTCCATAATTTTTACGAGTAAAAATAGAAAGAGCTGATCATGTACCTTAATATTGTCACTTTATATATTACTCAAAAGTACAAATAACCCTAAAAGTAGAATCCCAGGCTTATCATATTATAAAAATACTGAGACATTTATCAAACATAACTAATATAAATGAAACTACATTTTTAAAAATGTTTCACAAACACCAGTCCATCTTTCTCTTTGGTTCAGAAAATAAAAGAGGTAGGTTCAAATAAAGAAAATGCCTATTACATCATTAGATTTTCATTAAAATGCTGGAAATTTATAACAGAAATTATT

29

Bolnik

Mama

Oče

SLC25A24p.Arg217His

SLC25A24p.Arg217His

Slovenskadružina

Francoska družina

30

Mednarodno povezovanje pri odkrivanju novega gena

Francoski bolnik Naš bolnik

Španski bolnik

31

Mednarodno povezovanje pri odkrivanju novega gena

Francoski bolnik Naš bolnik

Španski bolnik

32

Mednarodno povezovanje pri odkrivanju novega gena

Francoski bolnik Naš bolnik

Španski bolnikItalijanski bolnik

33

All patients sharedde novo variants affecting Arg217

residue in SLC25A24 protein

G A

wt/wt wt/wt

PArg217His/wt

wt/wt wt/wt

P

wt/wt

P

wt/wt

Arg217Cys/wt

wt/wt wt/wt

PArg217His/wt

Arg217His/wt

French familySlovenian family

Spanish family* Italian family

G A C G G G A C G G

G A Y G G

G A C G G G A C G GG A

C/T

G A Y G GC/T

* results from single base extension assay

denotes sample availability for testingP denotes familial proband

G A

G A Y G GC/T

G A C G GG A C G G

Writzl et al, AJHG

Dr. Lidija Kovačič

Model strukture beljakovine SLC25A24

Dr. Lidija Kovačič

Model strukture beljakovine SLC25A24

Dr. Lidija Kovačič

Model strukture beljakovine SLC25A24

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