Evidence map›Paper›PMID 42864257›Full record

ReviewJournal of inherited metabolic disease2026

Revisiting Inherited Metabolic Diseases (IMDs) Through the Lens of Selective Autophagy.

Marianna Maddaluno, Laura Cinque, Viviana Cetrangolo, Chiara De Leonibus

Abstract readReview
In one paragraph

Review in Journal of inherited metabolic disease, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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.

Marianna MaddalunoTelethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.
Laura CinqueTelethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.ORCID https://orcid.org/0000-0002-8497-3939
Viviana CetrangoloTelethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.ORCID https://orcid.org/0000-0002-4583-6181
Chiara De LeonibusTelethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.ORCID https://orcid.org/0000-0003-4440-3402

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Selective autophagy is increasingly recognized as a fundamental quality-control mechanism that complements bulk autophagy by enabling the targeted degradation of specific intracellular cargos, including mitochondria, endoplasmic reticulum (ER), lipid droplets, glycogen, peroxisomes, ferritin, ribosomes, and protein aggregates. Cargo selectivity is mediated by selective autophagy receptors (SARs), which link damaged or superfluous substrates to the autophagic machinery through LC3/GABARAP interactions, thereby coordinating cargo sequestration. Recent studies have revealed substantial mechanistic differences between bulk and selective autophagy, highlighting the specialized signaling pathways, receptor networks, and transcriptional programs that regulate selective cargo clearance. Dysregulation of these pathways has emerged as a key contributor to the pathogenesis of inherited metabolic diseases (IMDs), a heterogeneous group of genetic disorders characterized by defective metabolism and multisystem involvement. This review summarizes the molecular mechanisms underlying major forms of selective autophagy, including mitophagy, pexophagy, glycophagy, lipophagy, ER-phagy, and ferritinophagy. It also discusses their relevance across IMD classes, such as mitochondrial disorders, lysosomal storage disorders, and peroxisomal diseases, among many others. Furthermore, selective autophagy is highlighted as a potential therapeutic target, with modulation of autophagy receptors and signaling pathways offering promising strategies to restore cellular homeostasis and improve disease manifestations in IMDs.

Indexed as

AutophagyMetabolic DiseasesMetabolism, Inborn ErrorsAnimalsEndoplasmic ReticulumHumansMitochondriaMitophagySignal Transductionbulk autophagyinherited metabolic diseases (IMDs)selective autophagyselective autophagy cargos (SACs)selective autophagy receptors (SARs)

Identifiers

PMID42864257
PMCPMC13658046

What OpenQuestion holds

Textmetadata
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.