SQSTM1 mutations - Bridging Paget disease of bone and ALS/FTLD
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- 作者：Sarah L. Reaa ; b ; 1 ; Veronika Majcherc ; 1 ; Mark S. Searled ; Rob Layfieldc ; robert.layfield@nottingham.ac.uk" class="auth_mail
- 关键词：ALS ; amyotrophic lateral sclerosis ; aPKC ; atypical protein kinase C ; C9orf72 ; chromosome 9 open reading frame 72 ; FTD ; frontotemporal dementia ; FTLD ; frontotemporal lobar degeneration ; FUS/TLS ; fused in sarcoma/translocated in liposarcoma ; GWAS ; genome-wide association study ; IBMPFD ; inclusion body myopathy with Paget disease and frontotemporal dementia ; I魏B ; inhibitor of kappaB ; IKK ; inhibitor of kappaB kinase ; Keap1 ; Kelch-like ECH-associated protein 1 ; KIR ; Keap1-interacting region ; LC3 ; micr
- 刊名：Experimental Cell Research
- 出版年：1 July 2014
- 年：2014
- 卷：325
- 期：1
- 页码：27-37
- 全文大小：851 K
文摘
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SQSTM1 mutations frequently occur in Paget disease of bone.
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More recently SQSTM1 mutations have also been identified in ALS/FTLD.
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Some mutations are common to Paget disease and ALS/FTLD.
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Studies of Paget disease-associated SQSTM1 mutations provide new insights into ALS/FTLD.