PXD071580-1

PXD071580 is an original dataset announced via ProteomeXchange.

Title	Mitochondrial energetic failure underlies FLVCR1-related sensory neuropathy
Description	Genetic pain loss disorders represent a heterogeneous group of rare diseases mainly characterized by defective nociception. Understanding the underlying molecular mechanism is fundamental to improve the treatment of patients affected by these rare disorders. Feline Leukemia Virus Subgroup C Receptor 1 (FLVCR1) is one of the genes previously associated with sensory neuropathy that require further investigation. Here, we report on two additional patients with novel disease-causing variants in FLVCR1 and introduce a zebrafish model of the disease. The analyses of patient-derived fibroblasts showed that distinct FLVCR1 variants compromised all the known functions associated with FLVCR1, thus affecting choline levels, heme biosynthesis and mitochondrial Ca2+ handling. Furthermore, we provide evidence that the alteration of these processes impairs TCA cycle and OXPHOS, and induces lipid peroxidation. Our data points to the alterations of energetic metabolism as a potential driving pathomechanism in FLVCR1-associated sensory neuropathy.
HostingRepository	PRIDE
AnnounceDate	2026-02-02
AnnouncementXML	Submission_2026-02-02_02:57:53.623.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Andreas Hentschel
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: NEWT:9606;
ModificationList	iodoacetamide derivatized residue
Instrument	Orbitrap Fusion Lumos

Revision	Datetime	Status	ChangeLog Entry
0	2025-12-04 08:50:16	ID requested
⏵ 1	2026-02-02 02:57:54	announced

Dataset with its publication pending

submitter keyword: Posterior Column Ataxia and Retinitis Pigmentosa

PCARP

Retinitis Pigmentosa

Hereditary Sensory and Autonomic Neuropathy

HSAN

Heme

Choline

MAMs

MERCs

Prof. Dr. Albert Sickmann
contact affiliation	Proteomics, Leibniz-Institut für analytische Wissenschaften -ISAS - e.V., Germany
contact email	albert.sickmann@isas.de
lab head
Andreas Hentschel
contact affiliation	Leibniz Institut für Analytische Wissenschaften
contact email	andreas.hentschel@isas.de
dataset submitter

Dataset FTP location NOTE: Most web browsers have now discontinued native support for FTP access within the browser window. But you can usually install another FTP app (we recommend FileZilla) and configure your browser to launch the external application when you click on this FTP link. Or otherwise, launch an app that supports FTP (like FileZilla) and use this address: ftp://ftp.pride.ebi.ac.uk/pride/data/archive/2026/02/PXD071580

PRIDE project URI

• PRIDE
  1. PXD071580
     1. Label: PRIDE project
     2. Name: Mitochondrial energetic failure underlies FLVCR1-related sensory neuropathy