CALR c.154_155delinsCC ;(p.S52P)

Variant ID: 19-13050010-AG-CC

NM_004343.3(CALR):c.154_155delinsCC;(p.S52P)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Amyposomes, a nanotechnological chaperone with anti-amyloidogenic activity.

Annals Of Medicine
Re, Francesca F; Giorgetti, Sofia S; Biondi, Barbara B; Scapin, Stefano S; Mantegazza, Francesco F; Cassina, Valeria V; Sesana, Silvia Maria SM; Rizzi, Laura L; Eberini, Ivano I; Palazzolo, Luca L; Beeg, Marten M; Gobbi, Marco M; Sardina, Marco M; Masserini, Massimo M
Publication Date: 2023-12

Variant appearance in text: SSA: S52P
PubMed Link: 37143345
Variant Present in the following documents:
  • Main text
  • IANN_55_2205659.pdf
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Development of a Highly Potent Transthyretin Amyloidogenesis Inhibitor: Design, Synthesis, and Evaluation.

Journal Of Medicinal Chemistry
Pinheiro, Francisca F; Pallarès, Irantzu I; Peccati, Francesca F; Sánchez-Morales, Adrià A; Varejão, Nathalia N; Bezerra, Filipa F; Ortega-Alarcon, David D; Gonzalez, Danilo D; Osorio, Marcelo M; Navarro, Susanna S; Velázquez-Campoy, Adrián A; Almeida, Maria Rosário MR; Reverter, David D; Busqué, Félix F; Alibés, Ramon R; Sodupe, Mariona M; Ventura, Salvador S
Publication Date: 2022-11-10

Variant appearance in text: SSA: Ser52Pro
PubMed Link: 36306808
Variant Present in the following documents:
  • jm2c01195.pdf
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The Transthyretin/Oleuropein Aglycone Complex: A New Tool against TTR Amyloidosis.

Pharmaceuticals (Basel, Switzerland)
Bemporad, Francesco F; Leri, Manuela M; Ramazzotti, Matteo M; Stefani, Massimo M; Bucciantini, Monica M
Publication Date: 2022-02-23

Variant appearance in text: SSA: Ser52Pro
PubMed Link: 35337074
Variant Present in the following documents:
  • pharmaceuticals-15-00277.pdf
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Disease-associated mutations impacting BC-loop flexibility trigger long-range transthyretin tetramer destabilization and aggregation.

The Journal Of Biological Chemistry
Esperante, Sebastián A SA; Varejāo, Nathalia N; Pinheiro, Francisca F; Sant'Anna, Ricardo R; Luque-Ortega, Juan Román JR; Alfonso, Carlos C; Sora, Valentina V; Papaleo, Elena E; Rivas, Germán G; Reverter, David D; Ventura, Salvador S
Publication Date: 2021-09

Variant appearance in text: SSA: S52P
PubMed Link: 34343569
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



A serine protease secreted from Bacillus subtilis cleaves human plasma transthyretin to generate an amyloidogenic fragment.

Communications Biology
Peterle, Daniele D; Pontarollo, Giulia G; Spada, Stefano S; Brun, Paola P; Palazzi, Luana L; Sokolov, Alexej V AV; Spolaore, Barbara B; Polverino de Laureto, Patrizia P; Vasilyev, Vadim B VB; Castagliuolo, Ignazio I; De Filippis, Vincenzo V
Publication Date: 2020-12-11

Variant appearance in text: SSA: Ser52Pro
PubMed Link: 33311636
Variant Present in the following documents:
  • Main text
  • 42003_2020_Article_1493.pdf
View BVdb publication page



A molecular mechanism for transthyretin amyloidogenesis.

Nature Communications
Yee, Ai Woon AW; Aldeghi, Matteo M; Blakeley, Matthew P MP; Ostermann, Andreas A; Mas, Philippe J PJ; Moulin, Martine M; de Sanctis, Daniele D; Bowler, Matthew W MW; Mueller-Dieckmann, Christoph C; Mitchell, Edward P EP; Haertlein, Michael M; de Groot, Bert L BL; Boeri Erba, Elisabetta E; Forsyth, V Trevor VT
Publication Date: 2019-02-25

Variant appearance in text: SSA: S52P
PubMed Link: 30804345
Variant Present in the following documents:
  • Main text
  • 41467_2019_Article_8609.pdf
View BVdb publication page



A FTIR microspectroscopy study of the structural and biochemical perturbations induced by natively folded and aggregated transthyretin in HL-1 cardiomyocytes.

Scientific Reports
Ami, Diletta D; Mereghetti, Paolo P; Leri, Manuela M; Giorgetti, Sofia S; Natalello, Antonino A; Doglia, Silvia Maria SM; Stefani, Massimo M; Bucciantini, Monica M
Publication Date: 2018-08-21

Variant appearance in text: SSA: Ser52Pro
PubMed Link: 30131519
Variant Present in the following documents:
  • 41598_2018_Article_30995.pdf
View BVdb publication page



(99m)Tc-DPD uptake reflects amyloid fibril composition in hereditary transthyretin amyloidosis.

Upsala Journal Of Medical Sciences
Pilebro, Björn B; Suhr, Ole B OB; Näslund, Ulf U; Westermark, Per P; Lindqvist, Per P; Sundström, Torbjörn T
Publication Date: 2016

Variant appearance in text: SSA: Ser52Pro
PubMed Link: 26849806
Variant Present in the following documents:
  • Main text
  • iups-121-17.pdf
View BVdb publication page