Dataset Information

PCYT1A deficiency disturbs fatty acid metabolism and induces ferroptosis in the mouse retina

ABSTRACT: Inherited retinal dystrophies (IRDs) are a group of debilitating visual disorders characterized by the progressive degeneration of photoreceptors, which ultimately lead to blindness. Among the causes of this condition, mutations in the PCYT1A gene, which encodes the rate-limiting enzyme responsible for phosphatidylcholine (PC) de novo synthesis via the Kennedy pathway, have been identified. However, the precise mechanisms underlying the association between PCYT1A mutations and IRDs remain unclear. To address this knowledge gap, we focused on elucidating the functions of PCYT1A in the retina.

INSTRUMENT(S):

ORGANISM(S): Mus Musculus (mouse)

TISSUE(S): Retina

DISEASE(S): Retinal Disease

SUBMITTER: kaifang wang

LAB HEAD: kaifang wang

PROVIDER: PXD051537 | Pride | 2025-06-09

REPOSITORIES: Pride

ACCESS DATA

Dataset's files

Source:

			Action	DRS
	SKO1_Slot2-34_1_10203.d.zip	Other
	SKO2_Slot2-35_1_10206.d.zip	Other
	SKO3_Slot2-36_1_10207.d.zip	Other
	WT1_Slot1-37_1_10209.d.zip	Other
	WT2_Slot2-38_1_10210.d.zip	Other

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Publications

PCYT1A deficiency disturbs fatty acid metabolism and induces ferroptosis in the mouse retina.

Wang Kaifang K Xu Huijuan H Zou Rong R Zeng Guangqun G Yuan Ye Y Zhu Xianjun X Zhao Xiaohui X Li Jie J Zhang Lin L

BMC biology 20240610 1

<h4>Background</h4>Inherited retinal dystrophies (IRDs) are a group of debilitating visual disorders characterized by the progressive degeneration of photoreceptors, which ultimately lead to blindness. Among the causes of this condition, mutations in the PCYT1A gene, which encodes the rate-limiting enzyme responsible for phosphatidylcholine (PC) de novo synthesis via the Kennedy pathway, have been identified. However, the precise mechanisms underlying the association between PCYT1A mutations and ...[more]

PMID: 38858683

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