Characterization of an FTLD-PDB family with the coexistence of SQSTM1 mutation and hexanucleotide (G 4 C 2 ) repeat expansion in C9orf72 gene-Reference-Cited by-同舟云学术

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Characterization of an FTLD-PDB family with the coexistence of SQSTM1 mutation and hexanucleotide (G 4 C 2 ) repeat expansion in C9orf72 gene

Published:2016-04 Issue: Volume:40 Page:191.e1-191.e8
ISSN:0197-4580
Container-title:Neurobiology of Aging
language:en
Short-container-title:Neurobiology of Aging

Author:

Almeida Maria Rosário,Letra Liliana,Pires Paula,Santos Ana,Rebelo Olinda,Guerreiro Rita,van der Zee Julie,Van Broeckhoven Christine,Santana Isabel

Publisher

Elsevier BV

Subject

Geriatrics and Gerontology,Developmental Biology,Neurology (clinical),Aging,General Neuroscience

Reference43 articles.

1. p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS;Al-Sarraj;Acta Neuropathol,2011

2. p62/SQSTM1: a missing link between protein aggregates and the autophagy machinery;Bjørkøy;Autophagy,2006

3. Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72;Boeve;Brain,2012

4. Loss of ubiquitin binding is a unifying mechanism by which mutations of SQSTM1 cause Paget's disease of bone;Cavey;Calcif. Tissue Int.,2006

5. Novel evidence of phenotypical variability in the hexanucleotide repeat expansion in chromosome 9;Cerami;J. Alzheimers Dis.,2013

Cited by 23 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. C9orf72 gene networks in the human brain correlate with cortical thickness in C9-FTD and implicate vulnerable cell types;Frontiers in Neuroscience;2024-02-26

2. Neuropsychological Assessment in the Distinction Between Biomarker Defined Frontal-Variant of Alzheimer’s Disease and Behavioral-Variant of Frontotemporal Dementia;Journal of Alzheimer's Disease;2023-02-14

3. Serum neurofilament light chain as a surrogate of cognitive decline in sporadic and familial frontotemporal dementia;European Journal of Neurology;2021-09-03

4. SQSTM1 variant in disorders of the frontotemporal dementia–amyotrophic lateral sclerosis spectrum: identification of a novel heterozygous variant and a review of the literature;Journal of Neurology;2020-10-30

5. Loss of TMEM 106B potentiates lysosomal and FTLD ‐like pathology in progranulin‐deficient mice;EMBO reports;2020-09-14

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