Unravelling the threads of Marfan Syndrome and mitochondrial metabolism

C. Yap

Unravelling the threads of Marfan Syndrome and mitochondrial metabolism

C. Yap

Research output: PhD Thesis › Phd-Thesis - Research and graduation internal

Abstract

Marfan syndrome (MFS) is a heritable connective tissue disorder primarily caused by pathogenic variants in the fibrillin-1 (FBN1) gene, with early mortality often resulting from aortic complications. In this thesis, I investigate metabolic changes in MFS, highlighting mitochondrial dysfunction as a key factor in worsening aortic pathology. Focusing on the abundant smooth muscle cells

Original language	English
Qualification	Doctor of Philosophy
Awarding Institution	University of Amsterdam
Supervisors/Advisors	de Waard, Vivian, Supervisor de Vries, Carlie JM, Supervisor Micha, Dimitra, Co-supervisor Mieremet, Arnout, Co-supervisor
Award date	12 Dec 2024
Print ISBNs	9789465065731
Publication status	Published - 2024

Access to Document

https://hdl.handle.net/11245.1/ed0157be-c258-4b90-aff0-a3b34161f6d5

Cite this

@phdthesis{5a519cf82eae46c0b9da5ccc6112bf04,

title = "Unravelling the threads of Marfan Syndrome and mitochondrial metabolism",

abstract = "Marfan syndrome (MFS) is a heritable connective tissue disorder primarily caused by pathogenic variants in the fibrillin-1 (FBN1) gene, with early mortality often resulting from aortic complications. In this thesis, I investigate metabolic changes in MFS, highlighting mitochondrial dysfunction as a key factor in worsening aortic pathology. Focusing on the abundant smooth muscle cells",

author = "C. Yap",

year = "2024",

language = "English",

isbn = "9789465065731",

type = "Phd-Thesis - Research and graduation internal",

school = "University of Amsterdam",

}

TY - THES

T1 - Unravelling the threads of Marfan Syndrome and mitochondrial metabolism

AU - Yap, C.

PY - 2024

Y1 - 2024

N2 - Marfan syndrome (MFS) is a heritable connective tissue disorder primarily caused by pathogenic variants in the fibrillin-1 (FBN1) gene, with early mortality often resulting from aortic complications. In this thesis, I investigate metabolic changes in MFS, highlighting mitochondrial dysfunction as a key factor in worsening aortic pathology. Focusing on the abundant smooth muscle cells

AB - Marfan syndrome (MFS) is a heritable connective tissue disorder primarily caused by pathogenic variants in the fibrillin-1 (FBN1) gene, with early mortality often resulting from aortic complications. In this thesis, I investigate metabolic changes in MFS, highlighting mitochondrial dysfunction as a key factor in worsening aortic pathology. Focusing on the abundant smooth muscle cells

M3 - Phd-Thesis - Research and graduation internal

SN - 9789465065731

ER -

Unravelling the threads of Marfan Syndrome and mitochondrial metabolism

Abstract

Access to Document

Fingerprint

Cite this