التفاصيل البيبلوغرافية
| العنوان: |
A novel splice site FUS mutation in a familial ALS case: effects on protein expression |
| المؤلفون: |
Antonio Canosa (24021), Annarosa Lomartire (10679849), Giovanni De Marco (10679852), Maurizio Grassano (9315154), Maura Brunetti (10679855), Umberto Manera (9315136), Rosario Vasta (3752896), Paolina Salamone (380292), Giuseppe Fuda (10660197), Luca Sbaiz (10679858), Salvatore Gallone (6040673), Cristina Moglia (2634964), Andrea Calvo (4531069), Adriano Chiò (23282) |
| سنة النشر: |
2021 |
| المجموعة: |
Smithsonian Institution: Digital Repository |
| مصطلحات موضوعية: |
Biochemistry, Cell Biology, Genetics, Molecular Biology, Neuroscience, Physiology, Cancer, Hematology, Virology, Amyotrophic lateral sclerosis, FUS, splice site mutation, loss of function |
| الوصف: |
Objective: To investigate the impact of a novel heterozygous FUS mutation in the acceptor splice site of intron 14 (c.1542 − 1 g > t) on protein expression in Peripheral Blood Mononuclear Cells (PBMC) from a familial ALS patient. Methods : PBMC were isolated for mRNA analysis (cDNA synthesis, sequencing and one-step RT-PCR), Western Immunoblot (WI), and Immunofluorescence (IF). Results : cDNA analysis revealed the skipping of exon 15 and a premature stop codon at c.228. RT-PCR showed reduced FUS mRNA by more than half compared to a healthy control (HC) and an ALS patient without genetic mutations (wtALS). In WI FUS band intensity in the proband was 30–50% compared to HC and wtALS. An antibody expected to detect only the wild-type protein did not reveal any reduction of FUS band intensity compared to the other antibodies. IF showed no difference among HC, wtALS, and the proband. Discussion : The reduction of FUS mRNA and protein in PBMC suggests the absence of the truncated protein, probably due to nonsense-mediated decay, leading to loss of function. |
| نوع الوثيقة: |
article in journal/newspaper |
| اللغة: |
unknown |
| العلاقة: |
https://figshare.com/articles/journal_contribution/A_novel_splice_site_i_FUS_i_mutation_in_a_familial_ALS_case_effects_on_protein_expression/14459021Test |
| DOI: |
10.6084/m9.figshare.14459021.v1 |
| الإتاحة: |
https://doi.org/10.6084/m9.figshare.14459021.v1Test |
| حقوق: |
CC BY 4.0 |
| رقم الانضمام: |
edsbas.331776AD |
| قاعدة البيانات: |
BASE |
