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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2020 | 1 |
2021 | 1 |
2022 | 3 |
2024 | 0 |
PubMed (OMIM) for id: 26175
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GCAF(TMEM251) regulates lysosome biogenesis by activating the mannose-6-phosphate pathway.
Nat Commun. 2022 Sep 12;13(1):5351. doi: 10.1038/s41467-022-33025-1.
Nat Commun. 2022.
PMID: 36096887
Free PMC article.
Lysosomal enzyme trafficking factor LYSET enables nutritional usage of extracellular proteins.
Pechincha C, Groessl S, Kalis R, de Almeida M, Zanotti A, Wittmann M, Schneider M, de Campos RP, Rieser S, Brandstetter M, Schleiffer A, Müller-Decker K, Helm D, Jabs S, Haselbach D, Lemberg MK, Zuber J, Palm W.
Pechincha C, et al.
Science. 2022 Oct 7;378(6615):eabn5637. doi: 10.1126/science.abn5637. Epub 2022 Oct 7.
Science. 2022.
PMID: 36074822
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The human disease gene LYSET is essential for lysosomal enzyme transport and viral infection.
Richards CM, Jabs S, Qiao W, Varanese LD, Schweizer M, Mosen PR, Riley NM, Klüssendorf M, Zengel JR, Flynn RA, Rustagi A, Widen JC, Peters CE, Ooi YS, Xie X, Shi PY, Bartenschlager R, Puschnik AS, Bogyo M, Bertozzi CR, Blish CA, Winter D, Nagamine CM, Braulke T, Carette JE.
Richards CM, et al.
Science. 2022 Oct 7;378(6615):eabn5648. doi: 10.1126/science.abn5648. Epub 2022 Oct 7.
Science. 2022.
PMID: 36074821
Free PMC article.
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Biallelic TMEM251 variants in patients with severe skeletal dysplasia and extreme short stature.
Ain NU, Muhammad N, Dianatpour M, Baroncelli M, Iqbal M, Fard MAF, Bukhari I, Ahmed S, Hajipour M, Tabatabaie Z, Foroutan H, Nilsson O, Faghihi MA, Makitie O, Naz S.
Ain NU, et al.
Hum Mutat. 2021 Jan;42(1):89-101. doi: 10.1002/humu.24139. Epub 2020 Nov 30.
Hum Mutat. 2021.
PMID: 33252156
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