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PIEZO1-related Hereditary Xerocytosis Red Blood Cell proteomics

ABSTRACT: Proteome of purified erythrocytes from blood samples from patients diagnosed with a PIEZO1-HX based on familial history, non-spherocytic chronic hemolysis, typical osmotic gradient ektacytometry and molecular testing and from healthy donors were analyzed by a label free quantification approach.

INSTRUMENT(S): LTQ Orbitrap Velos

ORGANISM(S): Homo Sapiens (human)

TISSUE(S): Erythrocyte, Blood

DISEASE(S): Congenital Hemolytic Anemia

SUBMITTER: Emilie-Fleur GAUTIER

LAB HEAD: Loïc Garçon

PROVIDER: PXD031963 | Pride | 2023-03-11

REPOSITORIES: Pride

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			Action	DRS
	DVPTPaMA161205_DHST4_F_GR_SCX1_O17886.raw	Raw
	DVPTPaMA161205_DHST4_F_GR_SCX2_O17887.raw	Raw
	DVPTPaMA161205_DHST4_F_GR_SCX3_O17888.raw	Raw
	DVPTPaMA161205_DHST4_F_GR_SCX4_O17889.raw	Raw
	DVPTPaMA161205_DHST4_F_GR_SCX5_O17890.raw	Raw

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Publications

Red blood cell proteomics reveal remnant protein biosynthesis and folding pathways in PIEZO1-related hereditary xerocytosis.

Caulier Alexis A Jankovsky Nicolas N Gautier Emilie Fleur EF El Nemer Wassim W Guitton Corinne C Ouled-Haddou Hakim H Guillonneau François F Mayeux Patrick P Salnot Virginie V Bruce Johanna J Picard Véronique V Garçon Loïc L

Frontiers in physiology 20221201

Hereditary xerocytosis is a dominant red cell membrane disorder characterized by an increased leak of potassium from the inside to outside the red blood cell membrane, associated with loss of water leading to red cell dehydration and chronic hemolysis. 90% of cases are related to heterozygous gain of function mutations in PIEZO1, encoding a mechanotransductor that translates a mechanical stimulus into a biological signaling. Data are still required to understand better PIEZO1-HX pathophysiology. ...[more]

PMID: 36531183

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