PMC Links for Protein (Select 74749827) - PMC - NCBI

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Items: 5

Select item 66877361.

ANO5 mutations in the Polish limb girdle muscular dystrophy patients: Effects on the protein structure

Adam Jarmula, Anna Łusakowska, Jakub P. Fichna, Malgorzata Topolewska, Anna Macias, Katherine Johnson, Ana Töpf, Volker Straub, Edyta Rosiak, Krzysztof Szczepaniak, Stanisław Dunin-Horkawicz, Aleksandra Maruszak, Anna M. Kaminska, Maria Jolanta Redowicz

Sci Rep. 2019; 9: 11533. Published online 2019 Aug 8. doi: 10.1038/s41598-019-47849-3

PMCID:: PMC6687736

Abstract Article PDF–3.4M

Select item 66393032.

Dysregulated calcium homeostasis prevents plasma membrane repair in Anoctamin 5/TMEM16E-deficient patient muscle cells

Goutam Chandra, Aurelia Defour, Kamel Mamchoui, Kalpana Pandey, Soumya Mishra, Vincent Mouly, SenChandra Sreetama, Mohammad Mahad Ahmad, Ibrahim Mahjneh, Hiroki Morizono, Nagarajan Pattabiraman, Anant K. Menon, Jyoti K. Jaiswal

Cell Death Discov. 2019; 5: 118. Published online 2019 Jul 18. doi: 10.1038/s41420-019-0197-z

PMCID:: PMC6639303

Abstract Article PDF–3.2M

Select item 62196933.

Anoctamin 5/TMEM16E facilitates muscle precursor cell fusion

Jarred M. Whitlock, Kuai Yu, Yuan Yuan Cui, H. Criss Hartzell

J Gen Physiol. 2018 Nov 5; 150(11): 1498–1509. doi: 10.1085/jgp.201812097

PMCID:: PMC6219693

Abstract Article PDF–2.0M

Select item 58974904.

Gain of function of TMEM16E/ANO5 scrambling activity caused by a mutation associated with gnathodiaphyseal dysplasia

Eleonora Di Zanni, Antonella Gradogna, Joachim Scholz-Starke, Anna Boccaccio

Cell Mol Life Sci. 2018 May; 75(9): 1657–1670. Published online 2017 Nov 9. doi: 10.1007/s00018-017-2704-9

PMCID:: PMC5897490

Abstract Article PDF–3.3M

Select item 52968365.

Three novel ANO5 missense mutations in Caucasian and Chinese families and sporadic cases with gnathodiaphyseal dysplasia

Lingling Jin, Yi Liu, Fanyue Sun, Michael T. Collins, Keith Blackwell, Albert S. Woo, Ernst J. Reichenberger, Ying Hu

Sci Rep. 2017; 7: 40935. Published online 2017 Feb 8. doi: 10.1038/srep40935

PMCID:: PMC5296836

Abstract Article PDF–1.5M

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