PXD050983-1

PXD050983 is an original dataset announced via ProteomeXchange.

Title	Fam134c and Fam134b shape axonal endoplasmic reticulum architecture in vivo.
Description	Endoplasmic reticulum (ER) remodeling is vital for cellular organization. ER-phagy, a selective autophagy targeting ER, plays an important role in maintaining ER morphology and function. The FAM134 protein family, including FAM134A, FAM134B, and FAM134C, mediates ER-phagy. While FAM134B mutations are linked to hereditary sensory and autonomic neuropathy in humans, the physiological role of the other FAM134 proteins remains unknown. To address this, we investigated the roles of FAM134 proteins using single and combined knockouts (KOs) in mice. Single KO in young mice showed no major phenotypes, however, combined Fam134b and Fam134c deletion (Fam134b/cdKO), but not the combination including Fam134a deletion, led to rapid neuromuscular and somatosensory degeneration, resulting in premature death. Fam134b/cdKO mice show rapid loss of motor and sensory axons in the peripheral nervous system. Long axons from Fam134b/cdKO mice exhibited expanded tubular ER with a transverse ladder-like appearance, whereas no obvious abnormalities were observed in cortical ER. Our study unveils critical roles of FAM134C and FAM134B in the formation of tubular ER network in axons of both motor and sensory neurons.
HostingRepository	PRIDE
AnnounceDate	2024-06-24
AnnouncementXML	Submission_2024-06-24_08:08:17.938.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Francescopaolo Iavarone
SpeciesList	scientific name: Mus musculus (Mouse); NCBI TaxID: 10090;
ModificationList	No PTMs are included in the dataset
Instrument	Q Exactive HF

Revision	Datetime	Status	ChangeLog Entry
0	2024-03-26 06:55:32	ID requested
⏵ 1	2024-06-24 08:08:18	announced

Dataset with its publication pending

submitter keyword: Fam134a, Fam134b, Fam134c, Endoplasmic reticulum, axon

Francescopaolo Iavarone
contact affiliation	TIGEM
contact email	f.iavarone@tigem.it
lab head
Francescopaolo Iavarone
contact affiliation	TIGEM
contact email	f.iavarone@tigem.it
dataset submitter

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PRIDE project URI

• PRIDE
  1. PXD050983
     1. Label: PRIDE project
     2. Name: Fam134c and Fam134b shape axonal endoplasmic reticulum architecture in vivo.