Literature for peptidase M12.027: ADAMTS17 peptidase

(Topics flags: M Mutation, V Review. To select only the references relevant to a single topic, click the link above. See explanation.)

2023
1. Guo,D., Liu,L., Yang,F., Young,C.A., Zheng,D. and Jin,G.
   Characteristics and genotype-phenotype correlations in ADAMTS17 mutation-related Weill-Marchesani syndrome
   Exp Eye Res234, 109606-109606. PubMed  Europe PubMed DOI
2021
2. Balic,Z., Misra,S., Willard,B., Reinhardt,D.P., Apte,S.S. and Hubmacher,D.
   Alternative splicing of the metalloprotease ADAMTS17 spacer regulates secretion and modulates autoproteolytic activity
   FASEB J35, e21310-e21310. PubMed  Europe PubMed DOI
2020
3. Satz-Jacobowitz,B. and Hubmacher,D.
   The quest for substrates and binding partners: A critical barrier for understanding the role of ADAMTS proteases in musculoskeletal development and disease
   Dev Dyn250, 8-26. PubMed  Europe PubMed DOI  V
2019
4. Yi,H., Zha,X., Zhu,Y., Lv,J., Hu,S., Kong,Y., Wu,G., Yang,Y. and He,Y.
   A novel nonsense mutation in ADAMTS17 caused autosomal recessive inheritance Weill-Marchesani syndrome from a Chinese family
   J Hum Genet64, 681-687. PubMed  Europe PubMed DOI  M
2017
5. Hubmacher,D., Schneider,M., Berardinelli,S.J., Takeuchi,H., Willard,B., Reinhardt,D.P., Haltiwanger,R.S. and Apte,S.S.
   Unusual life cycle and impact on microfibril assembly of ADAMTS17, a secreted metalloprotease mutated in genetic eye disease
   Sci Rep7, 41871-41871. PubMed  Europe PubMed DOI  M
2015
6. Dubail,J. and Apte,S.S.
   Insights on ADAMTS proteases and ADAMTS-like proteins from mammalian genetics
   Matrix Biol44-46, 24-37. PubMed  Europe PubMed DOI
2012
7. Apte,S.S.
   The ADAMTS endopeptidases
   [ISSN:978-0-12-407744-7]3, 1149-1155. DOI
2009
8. Morales,J., Al-Sharif,L., Khalil,D.S., Shinwari,J.M., Bavi,P., Al-Mahrouqi,R.A., Al-Rajhi,A., Alkuraya,F.S., Meyer,B.F. and Al Tassan,N.
   Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature
   Am J Hum Genet85, 558-568. PubMed  Europe PubMed DOI  M
2002
9. [YEAR:23-1-2002]Cal,S., Obaya,A.J., Llamazares,M., Garabaya,C., Quesada,V. and Lopez-Otin,C.
   Cloning, expression analysis, and structural characterization of seven novel human ADAMTSs, a family of metalloproteinases with disintegrin and thrombospondin-1 domains
   Gene283, 49-62. PubMed  Europe PubMed DOI