Amberger A - Search Results

1

Degradation of collagen I by activated C1s in periodontal Ehlers-Danlos Syndrome.

Amberger A, Pertoll J, Traunfellner P, Kapferer-Seebacher I, Stoiber H, Klimaschewski L, Thielens N, Gaboriaud C, Zschocke J. Amberger A, et al. Front Immunol. 2023 Mar 7;14:1157421. doi: 10.3389/fimmu.2023.1157421. eCollection 2023. Front Immunol. 2023. PMID: 36960056 Free PMC article.

2

Correction to: Lost in promiscuity? An evolutionary and biochemical evaluation of HSD10 function in cardiolipin metabolism.

Wohlfarter Y, Eidelpes R, Yu RD, Sailer S, Koch J, Karall D, Scholl-Bürgi S, Amberger A, Hillen HS, Zschocke J, Keller MA. Wohlfarter Y, et al. Among authors: amberger a. Cell Mol Life Sci. 2023 Jan 11;80(1):37. doi: 10.1007/s00018-022-04682-8. Cell Mol Life Sci. 2023. PMID: 36627535 Free PMC article. No abstract available.

3

Constitutional mismatch repair deficiency mimicking Lynch syndrome is associated with hypomorphic mismatch repair gene variants.

Gallon R, Brekelmans C, Martin M, Bours V, Schamschula E, Amberger A, Muleris M, Colas C, Dekervel J, De Hertogh G, Coupier J, Colleye O, Sepulchre E, Burn J, Brems H, Legius E, Wimmer K. Gallon R, et al. Among authors: amberger a. NPJ Precis Oncol. 2024 May 24;8(1):119. doi: 10.1038/s41698-024-00603-z. NPJ Precis Oncol. 2024. PMID: 38789506 Free PMC article.

4

ost in promiscuity? An evolutionary and biochemical evaluation of HSD10 function in cardiolipin metabolism.

Wohlfarter Y, Eidelpes R, Yu RD, Sailer S, Koch J, Karall D, Scholl-Bürgi S, Amberger A, Hillen HS, Zschocke J, Keller MA. Wohlfarter Y, et al. Among authors: amberger a. Cell Mol Life Sci. 2022 Oct 22;79(11):562. doi: 10.1007/s00018-022-04579-6. Cell Mol Life Sci. 2022. PMID: 36271951 Free PMC article.

5

Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations.

Hochberg I, Demain LAM, Richer J, Thompson K, Urquhart JE, Rea A, Pagarkar W, Rodríguez-Palmero A, Schlüter A, Verdura E, Pujol A, Quijada-Fraile P, Amberger A, Deutschmann AJ, Demetz S, Gillespie M, Belyantseva IA, McMillan HJ, Barzik M, Beaman GM, Motha R, Ng KY, O'Sullivan J, Williams SG, Bhaskar SS, Lawrence IR, Jenkinson EM, Zambonin JL, Blumenfeld Z, Yalonetsky S, Oerum S, Rossmanith W; Genomics England Research Consortium; Yue WW, Zschocke J, Munro KJ, Battersby BJ, Friedman TB, Taylor RW, O'Keefe RT, Newman WG. Hochberg I, et al. Among authors: amberger a. Am J Hum Genet. 2021 Nov 4;108(11):2195-2204. doi: 10.1016/j.ajhg.2021.10.002. Epub 2021 Oct 28. Am J Hum Genet. 2021. PMID: 34715011 Free PMC article.

6

AG-exclusion zone revisited: Lessons to learn from 91 intronic NF1 3' splice site mutations outside the canonical AG-dinucleotides.

Wimmer K, Schamschula E, Wernstedt A, Traunfellner P, Amberger A, Zschocke J, Kroisel P, Chen Y, Callens T, Messiaen L. Wimmer K, et al. Among authors: amberger a. Hum Mutat. 2020 Jun;41(6):1145-1156. doi: 10.1002/humu.24005. Epub 2020 Mar 11. Hum Mutat. 2020. PMID: 32126153 Free PMC article.

7

Two Different Missense C1S Mutations, Associated to Periodontal Ehlers-Danlos Syndrome, Lead to Identical Molecular Outcomes.

Bally I, Dalonneau F, Chouquet A, Gröbner R, Amberger A, Kapferer-Seebacher I, Stoiber H, Zschocke J, Thielens NM, Rossi V, Gaboriaud C. Bally I, et al. Among authors: amberger a. Front Immunol. 2019 Dec 18;10:2962. doi: 10.3389/fimmu.2019.02962. eCollection 2019. Front Immunol. 2019. PMID: 31921203 Free PMC article.

8

Corrigendum: C1R Mutations Trigger Constitutive Complement 1 Activation in Periodontal Ehlers-Danlos Syndrome.

Gröbner R, Kapferer-Seebacher I, Amberger A, Redolfi R, Dalonneau F, Björck E, Milnes D, Bally I, Rossi V, Thielens N, Stoiber H, Gaboriaud C, Zschocke J. Gröbner R, et al. Among authors: amberger a. Front Immunol. 2019 Dec 4;10:2837. doi: 10.3389/fimmu.2019.02837. eCollection 2019. Front Immunol. 2019. PMID: 31879527 Free PMC article.

9

C1R Mutations Trigger Constitutive Complement 1 Activation in Periodontal Ehlers-Danlos Syndrome.

Gröbner R, Kapferer-Seebacher I, Amberger A, Redolfi R, Dalonneau F, Björck E, Milnes D, Bally I, Rossi V, Thielens N, Stoiber H, Gaboriaud C, Zschocke J. Gröbner R, et al. Among authors: amberger a. Front Immunol. 2019 Nov 5;10:2537. doi: 10.3389/fimmu.2019.02537. eCollection 2019. Front Immunol. 2019. PMID: 31749804 Free PMC article.

10

Structural insight into the human mitochondrial tRNA purine N1-methyltransferase and ribonuclease P complexes.

Oerum S, Roovers M, Rambo RP, Kopec J, Bailey HJ, Fitzpatrick F, Newman JA, Newman WG, Amberger A, Zschocke J, Droogmans L, Oppermann U, Yue WW. Oerum S, et al. Among authors: amberger a. J Biol Chem. 2018 Aug 17;293(33):12862-12876. doi: 10.1074/jbc.RA117.001286. Epub 2018 Jun 7. J Biol Chem. 2018. PMID: 29880640 Free PMC article.

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