Loss of ATG5 in Humans Causes Syndromic Congenital Dyserythropoietic Anemia with Impaired Mitophagy in Late Stages of Terminal Erythropoiesis

Athina Ntoumaziou; Duc Nguyen; Yasmin Elgammal; Ammar Husami; Wenying Zhang; Kaitlin D Weaver; Jennifer L. Kasten; David D. Grier; Yi Zheng; Carolyn Lutzko; Mary Risinger; Jan Frayne; Katie Seu; Theodosia A. Kalfa

doi:10.1182/blood-2024-210280

Loss of ATG5 in Humans Causes Syndromic Congenital Dyserythropoietic Anemia with Impaired Mitophagy in Late Stages of Terminal Erythropoiesis

Athina Ntoumaziou, Duc Nguyen, Yasmin Elgammal, Ammar Husami, Wenying Zhang, Kaitlin D Weaver, Jennifer L. Kasten, David D. Grier, Yi Zheng, Carolyn Lutzko, Mary Risinger, Jan Frayne, Katie Seu, Theodosia A. Kalfa

School of Biochemistry

Research output: Contribution to journal › Article (Academic Journal) › peer-review

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Original language	English
Pages (from-to)	1084-1084
Number of pages	1
Journal	Blood
Volume	144
Issue number	Supplement 1
DOIs	https://doi.org/10.1182/blood-2024-210280
Publication status	Published - 6 Dec 2024

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Bristol BioDesign Institute

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10.1182/blood-2024-210280

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This is the accepted author manuscript (AAM) of the article which has been made Open Access under the University of Bristol's Scholarly Works Policy. The final published version (Version of Record) can be found on the publisher's website. The copyright of any third-party content, such as images, remains with the copyright holder.
Accepted author manuscript, 114 KBLicence: CC BY

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Molecular mechanism by which the E325K mutation of human KLF1 causes a severe dyserythropoietic anemia, utilising a novel model system of RBC disease
Frayne, J. (Principal Investigator)
1/05/18 → 5/04/22
Project: Research

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Ntoumaziou, A., Nguyen, D., Elgammal, Y., Husami, A., Zhang, W., Weaver, K. D., Kasten, J. L., Grier, D. D., Zheng, Y., Lutzko, C., Risinger, M., Frayne, J., Seu, K., & Kalfa, T. A. (2024). Loss of ATG5 in Humans Causes Syndromic Congenital Dyserythropoietic Anemia with Impaired Mitophagy in Late Stages of Terminal Erythropoiesis. Blood, 144(Supplement 1), 1084-1084. https://doi.org/10.1182/blood-2024-210280

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title = "Loss of ATG5 in Humans Causes Syndromic Congenital Dyserythropoietic Anemia with Impaired Mitophagy in Late Stages of Terminal Erythropoiesis",

author = "Athina Ntoumaziou and Duc Nguyen and Yasmin Elgammal and Ammar Husami and Wenying Zhang and Weaver, \{Kaitlin D\} and Kasten, \{Jennifer L.\} and Grier, \{David D.\} and Yi Zheng and Carolyn Lutzko and Mary Risinger and Jan Frayne and Katie Seu and Kalfa, \{Theodosia A.\}",

year = "2024",

month = dec,

day = "6",

doi = "10.1182/blood-2024-210280",

language = "English",

volume = "144",

pages = "1084--1084",

journal = "Blood",

issn = "0006-4971",

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Ntoumaziou, A, Nguyen, D, Elgammal, Y, Husami, A, Zhang, W, Weaver, KD, Kasten, JL, Grier, DD, Zheng, Y, Lutzko, C, Risinger, M, Frayne, J, Seu, K & Kalfa, TA 2024, 'Loss of ATG5 in Humans Causes Syndromic Congenital Dyserythropoietic Anemia with Impaired Mitophagy in Late Stages of Terminal Erythropoiesis', Blood, vol. 144, no. Supplement 1, pp. 1084-1084. https://doi.org/10.1182/blood-2024-210280

TY - JOUR

T1 - Loss of ATG5 in Humans Causes Syndromic Congenital Dyserythropoietic Anemia with Impaired Mitophagy in Late Stages of Terminal Erythropoiesis

AU - Ntoumaziou, Athina

AU - Nguyen, Duc

AU - Elgammal, Yasmin

AU - Husami, Ammar

AU - Zhang, Wenying

AU - Weaver, Kaitlin D

AU - Kasten, Jennifer L.

AU - Grier, David D.

AU - Zheng, Yi

AU - Lutzko, Carolyn

AU - Risinger, Mary

AU - Frayne, Jan

AU - Seu, Katie

AU - Kalfa, Theodosia A.

PY - 2024/12/6

Y1 - 2024/12/6

U2 - 10.1182/blood-2024-210280

DO - 10.1182/blood-2024-210280

M3 - Article (Academic Journal)

SN - 0006-4971

VL - 144

SP - 1084

EP - 1084

JO - Blood

JF - Blood

IS - Supplement 1

ER -

Loss of ATG5 in Humans Causes Syndromic Congenital Dyserythropoietic Anemia with Impaired Mitophagy in Late Stages of Terminal Erythropoiesis

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Molecular mechanism by which the E325K mutation of human KLF1 causes a severe dyserythropoietic anemia, utilising a novel model system of RBC disease

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