Evidence map›Paper›PMID 40243477›Full record

ArticleInternational journal of molecular sciences2025

Lysosomal Dysfunction in Amyotrophic Lateral Sclerosis: A Familial Case Linked to the p.G376D

Roberta Romano, Victoria Stefania Del Fiore, Giorgia Ruotolo, Martina Mazzoni, Jessica Rosati, Francesca Luisa Conforti, Cecilia Bucci

Abstract readCase Reports
In one paragraph

Article in International journal of molecular sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing 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

6 citing papers in PubMed.

  1. TMEM106B is a selective modulator of TDP-43 pathology in Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2026
    Article
  2. Article
  3. Article
  4. Article
  5. Biochemistry and biophysics reports · 2026
    Review
  6. Proteomic Identification of ALDOA as a Pathogenic TDP-43 Interaction Partner in ALS.Degenerative neurological and neuromuscular disease · 2025
    Article
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

7 authors.

Roberta RomanoDepartment of Experimental Medicine, University of Salento, Via Provinciale Lecce-Monteroni n. 165, 73100 Lecce, Italy.ORCID 0000-0002-4987-3561
Victoria Stefania Del FioreDepartment of Experimental Medicine, University of Salento, Via Provinciale Lecce-Monteroni n. 165, 73100 Lecce, Italy.ORCID 0000-0002-6768-5943
Giorgia RuotoloCell Reprogramming Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Italy.ORCID 0000-0002-6366-6868
Martina MazzoniCell Reprogramming Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Italy.
Jessica RosatiCell Reprogramming Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Italy.
Francesca Luisa ConfortiDepartment of Pharmacy, Health and Nutritional Sciences, University of Calabria, 87036 Rende, Italy.ORCID 0000-0001-8364-1783
Cecilia BucciDepartment of Experimental Medicine, University of Salento, Via Provinciale Lecce-Monteroni n. 165, 73100 Lecce, Italy.ORCID 0000-0002-6232-6183

Funding

Ministero dell'università e della ricerca D.M. n. 737 of 25.06.2021Ministero dell'università e della ricerca PRIN2022 N. 2022XTM2S3Ministero dell'università e della ricerca PRIN2022 PNRR N. P2022FBZXY
6 · The paper itself

Abstract

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease affecting motor neurons. Consequent to the loss of these cells, neuromuscular functions decline, causing progressive weakness, muscle wasting, and paralysis, leading to death in 2 to 5 years. More than 90% of ALS cases are sporadic, while the remaining 10% of cases are familial, due to mutations in 40 different genes. One of the most common genes to be mutated in ALS is

Indexed as

Amyotrophic Lateral SclerosisDNA-Binding ProteinsLysosomesMutationFemaleFibroblastsHumansInduced Pluripotent Stem CellsMaleMiddle AgedMotor NeuronsDNA-Binding ProteinsTARDBP protein, humanamyotrophic lateral sclerosislysosomeneurodegenerationneurodegenerative diseaseTDP-43TFEB

Identifiers

PMID40243477
PMCPMC11988578

What OpenQuestion holds

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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.