Evidence map›Paper›PMID 41827910›Full record

ReviewCells2026

TBK1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia: Mechanistic Insights into Impaired Autophagy and Proteostatic Failure.

Francesca Manganelli, Camilla Perfetto, Olga Carletta, Valeria Gerbino

Abstract readReview
In one paragraph

Review in Cells, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

  1. Article
  2. LINE-1 Retrotransposons and Amyotrophic Lateral Sclerosis.International journal of molecular sciences · 2026
    Review
  3. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors.

Francesca ManganelliIRCSS Fondazione Santa Lucia, European Center for Brain Research (CERC), Via del Fosso di Fiorano 64, 00143 Rome, Italy.
Camilla PerfettoIRCSS Fondazione Santa Lucia, European Center for Brain Research (CERC), Via del Fosso di Fiorano 64, 00143 Rome, Italy.
Olga CarlettaIRCSS Fondazione Santa Lucia, European Center for Brain Research (CERC), Via del Fosso di Fiorano 64, 00143 Rome, Italy.
Valeria GerbinoIRCSS Fondazione Santa Lucia, European Center for Brain Research (CERC), Via del Fosso di Fiorano 64, 00143 Rome, Italy.ORCID 0000-0002-7722-7284

Funding

Fondazione Italiana di Ricerca per la Sclerosi Laterale Amiotrofica MotorTBK1Italian Ministry of Health GR-2021-12375436
6 · The paper itself

Abstract

Mutations in the TANK-binding kinase 1 (TBK1) gene represent a significant genetic link across the Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD) spectrum. As a multifunctional serine/threonine kinase, TBK1 serves as a central orchestrator of the autophagy-lysosome pathway, regulating critical stages from initial cargo recognition and autophagosome biogenesis to vesicle maturation and lysosomal fusion. This review examines the mechanisms by which TBK1 coordinates these diverse autophagic functions. We then focus on how ALS/FTD-associated mutations-ranging from truncating variants causing haploinsufficiency to domain-specific missense mutations-disrupt these essential processes.

Indexed as

Amyotrophic Lateral SclerosisAutophagyFrontotemporal DementiaMutationProtein Serine-Threonine KinasesAnimalsHumansProtein Serine-Threonine KinasesTBK1 protein, humanAmyotrophic Lateral Sclerosis (ALS)autophagyfrontotemporal dementia (FTD)TANK-binding kinase 1 (TBK1)

Identifiers

PMID41827910
PMCPMC12985045

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.