Search Results - "Hau, Abbi"

Human skeletal myopathy myosin mutations disrupt myosin head sequestration by Carrington, Glenn, Hau, Abbi, Kosta, Sarah, Dugdale, Hannah F, Muntoni, Francesco, D'Amico, Adele, Van den Bergh, Peter, Romero, Norma B, Malfatti, Edoardo, Vilchez, Juan Jesus, Oldfors, Anders, Pajusalu, Sander, Õunap, Katrin, Giralt-Pujol, Marta, Zanoteli, Edmar, Campbell, Kenneth S, Iwamoto, Hiroyuki, Peckham, Michelle, Ochala, Julien

“…Myosin heavy chains encoded by MYH7 and MYH2 are abundant in human skeletal muscle and important for muscle contraction. However, it is unclear how mutations…”
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A Laing distal myopathy-associated proline substitution in the [beta]-myosin rod perturbs myosin cross-bridging activity by Buvoli, Massimo, Wilson, Genevieve C.K, Buvoli, Ada, Gugel, Jack F, Hau, Abbi, Bonnemann, Carsten G, Paradas, Carmen, Ryba, David M, Woulfe, Kathleen C, Walker, Lori A, Buvoli, Tommaso, Ochala, Julien, Leinwand, Leslie A

“…Proline substitutions within the coiled-coil rod region of the [beta]-myosin gene (MYH7) are the predominant mutations causing Laing distal myopathy (MPD1), an…”
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A Laing distal myopathy-associated proline substitution in the β-myosin rod perturbs myosin cross-bridging activity by Buvoli, Massimo, Wilson, Genevieve Ck, Buvoli, Ada, Gugel, Jack F, Hau, Abbi, Bönnemann, Carsten G, Paradas, Carmen, Ryba, David M, Woulfe, Kathleen C, Walker, Lori A, Buvoli, Tommaso, Ochala, Julien, Leinwand, Leslie A

“…Proline substitutions within the coiled-coil rod region of the β-myosin gene (MYH7) are the predominant mutations causing Laing distal myopathy (MPD1), an…”
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