ALS/FTD
ER-mitochondria associations are regulated by the VAPB-PTPIP51 interaction and are disrupted by ALS/FTD-associated TDP-43.
... both ALS and ...of ALS and FTD, accumulations of TDP-43 are a hallmark pathology of ALS/FTD and overexpression of both wild-type and familial ALS-associated mutants of TDP-43 all ...
13
Drosophila Ref1/ALYREF regulates transcription and toxicity associated with ALS/FTD disease etiologies
... in ALS as its depletion was able to suppress both TDP-43- and G4C2-induced ...of ALS pa- tients, with patients bearing the expanded G4C2 repeat mutation showing significantly higher ALYREF levels (see ...in ...
10
Stable transgenic C9orf72 zebrafish model key aspects of the ALS/FTD phenotype and reveal novel pathological features
... any time point [28]. In contrast, over a comparable time period (5 dpf ), the zebrafish presented here showed both motor and cognitive dysfunction. Additionally, our zebra- fish model survived to adulthood and displayed ...
16
Exposure to ALS-FTD-CSF generates TDP-43 aggregates in glioblastoma cells through exosomes and TNTs-like structure
... of ALS symptoms, whether and how TDP-43 aggregates spread between cells is not ...to ALS-FTD-CSF but not ALS-CSF and normal control (NC) -CSF for 21 ...from ALS-FTD- CSF were ...
14
Factors That Mediate Expression Of Unique Ggggcc Repeat Expansions In C9orf72-Associated Als/ftd.
... C9orf72-associated ALS/FTD that expressed an expanded GGGGCC hexanucleotide repeat (termed G4C2) downstream of the sequence normally found upstream of the repeat in patients (114bp of intronic DNA found ...
555
A C9ORF72 BAC mouse model recapitulates key epigenetic perturbations of ALS/FTD
... Two independent groups were first to develop trans- genic mouse models of C9-ALS carrying the pathogenic C9ORF72 HRE [22, 23]. The human repeat expansion sequence was introduced into the mouse genome using a ...
11
Clinical and neuropathological features of ALS/FTD with TIA1 mutations
... with ALS ± FTD caused by mutations in ...and ALS with TDP-ir ...pure FTD and families with TIA1 mutations should be reviewed for evidence of multisyste- mic features such as muscle and bone ...
13
Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD
... We have identified polyadenylated C9orf72 RNA species retaining the repeat-containing intron and in which downstream exons are spliced correctly resulting in a C9orf72 mRNA with an enlar[r] ...
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eIF4B and eIF4H mediate GR production from expanded G4C2 in a Drosophila model for C9orf72-associated ALS
... In addition to their involvement in non-canonical translation and in stimulating eIF4A (previously reported as a RAN-translation factor [27, 84]), we chose to focus on eIF4B and eIF4H as they are RNA-binding proteins ...
16
Is amyotrophic lateral sclerosis/frontotemporal dementia an autophagy disease?
... Sigma receptor-1 (SigR1, also known as ALS16) is an ER chaperone protein involved in calcium signaling, ion channel activity, synaptic plasticity, and neuronal sur- vival [160]. A mutation in SigR1 (E102Q) was identified ...
11
Pathogenesis of FUS-associated ALS and FTD: insights from rodent models
... Originally, FUS was identified for its role as a fu- sion oncoprotein in the development of round cell liposcarcomas and human myeloid leukaemias. Nine years before the recognition of its relevance to ALS/ ...
13
Loss of TBK1 is a frequent cause of frontotemporal dementia in a Belgian cohort
... with FTD, 22 of whom had concomitant ALS (FTD- ALS), and 147 patients with ALS ascertained in Belgium through an ongoing multicenter collaboration of neurology departments and memory ...
11
RRM adjacent TARDBP mutations disrupt RNA binding and enhance TDP-43 proteinopathy
... of ALS and tau-negative frontotemporal dementia (FTD) ...in ALS and FTD translocates from being predominantly nuclear to form detergent-resistant, hyperphosphorylated aggregates in the ...
19
Rare TBK1 variants in patients with frontotemporal dementia and amyotrophic lateral sclerosis in a Chinese cohort
... with ALS (age of onset: ...with FTD (age of onset: ...with FTD-ALS (age at onset: 61 years; female), and an ALS-FTD fam- ily (age at onset of proband: 45 years; ...causative ...
6
Brain distribution of dipeptide repeat proteins in frontotemporal lobar degeneration and motor neurone disease associated with expansions in C9ORF72
... Engelborghs S, Sieben A, De Jonghe P, Vandenberghe R, Santens P, De Bleecker J, Maes G, Baumer V, Dillen L, Joris G, Cuijt I, Corsmit E, Elinck E, Van Dongen J, Vermeulen S, Van den Broeck M, Vaerenberg C, Mattheijssens ...
13
A blended psychosocial support program for partners of patients with amyotrophic lateral sclerosis and progressive muscular atrophy: protocol of a randomized controlled trial
... Therapy; ALS: Amyotrophic Lateral Sclerosis; ALS-FRS-R: Amyotrophic Lateral Sclerosis Functional Rating Scale- Revised; ALS-FTD-Q: Amyotrophic Lateral Sclerosis-Frontotemporal Dementia- ...
11
Lehmer, Carina (2018): Molecular mechanisms and biomarkers of familial FTD/ALS. Dissertation, LMU München: Medizinische Fakultät
... Together, our data demonstrate that the Q108P mutation almost completely prevents mitochondrial import and perturbed mitochon- drial function may ultimately lead to motoneuron degeneration. The stronger effect of Q108P ...
131
Protein recycling pathways in neurodegenerative diseases
... in ALS and FTD ...of ALS and ALS-FTD, implying a functional convergence at the level of abnormal turn- over of ubiquitinated proteins ...in ALS and ...duce ALS-associated ...
9
Expression of Fused in sarcoma mutations in mice recapitulates the neuropathology of FUS proteinopathies and provides insight into disease pathogenesis
... that ALS or FTD-linked FUS mutations cause neurodegeneration by increasing cyotplasmic ...cause ALS/FTD, such as C9ORF72, sentaxin, and angiogenin, lends support to the idea that defective RNA ...
13
TDP-43 as a potential biomarker for amyotrophic lateral sclerosis: a systematic review and meta-analysis
... with ALS, further research to refine the use of CSF TDP-43 as a diagnostic tool is war- ...with FTD-ALS spectrum disor- ders might show if CSF TDP-43 increases with disease pro- ...diagnose ...
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