Cover Page The handle

Cover Page

The handle http://hdl.handle.net/1887/80759 holds various files of this Leiden University

dissertation.

Author: Grand Moursel, L.

Title: Molecular pathology of hereditary cerebral hemorrhage with amyloidosis-Dutch

type

161 160

Appendices

List of publications

Grand Moursel L, van der Graaf, LM, Bulk M, van Roon-Mom WMC

and van der Weerd L. Osteopontin and pSMAD2/3 are associated with calcification of vessels in hereditary cerebral amyloid angiopathy. Brain Pathol. (2019).

Grand Moursel L, van Roon-Mom WMC, Kiełbasa SM, Mei H, Buermans

HPJ, van der Graaf LM, Hettne KM, de Meijer EJ, van Duinen SG, Laros JFJ, van Buchem MA, ‘t Hoen PAC, van der Maarel SM and van der Weerd L. Brain Transcriptomic Analysis of Hereditary Cerebral Hemorrhage With Amyloidosis-Dutch Type. Front. Aging Neurosci. (2018).

Grand Moursel L, Munting LP, van der Graaf LM, van Duinen SG, Goumans

M-JTH, Ueberham U, Natté R, van Buchem MA, van Roon-Mom WMC, van der Weerd L. TGFbeta pathway deregulation and abnormal phospho-SMAD2/3 staining in hereditary cerebral hemorrhage with amyloidosis-Dutch type. Brain Pathol. (2017).

Bulk M, Grand Moursel L, van der Graaf, LM, Van der Veluw SJ, Greenberg SM, van Duinen SG, van Buchem MA, van Rooden S, van der Weerd L. Cerebral Amyloid Angiopathy With Vascular Iron Accumulation and Calcification A High-Resolution Magnetic Resonance Imaging Histopathology Study. (2018).

Bossoni L, Grand Moursel L, Bulk M, Simon BG, Webb A, van der Weerd L et al. Human-brain ferritin studied by muon spin rotation: a pilot study. J. Phys. Condens. Matter. (2017).

Rotman M, Welling MM, van den Boogaard ML, Grand Moursel L, van der Graaf LM, van Buchem MA, van der Maarel SM, van der Weerd L. Fusion of hIgG1-Fc to 111 in-anti-amyloid single domain antibody fragment VHH-pa2H prolongs blood residential time in APP/PS1 mice but does not increase brain uptake. Nucl Med Biol. (2015).

Kamp JA, Grand Moursel L, Haan J, Terwindt GM, Lesnik Oberstein SA, van Duinen SG, van Roon-Mom WM, Amyloid β in hereditary cerebral hemorrhage with amyloidosis-Dutch type. Rev. Neurosci. (2014).

De Morrée A, Flix B, Bagaric I, Wang J, van den Boogaard M, Grand

Moursel L, Frants RR, Illa I, Gallardo E, Toes R, van der Maarel SM,

Appendices

De Morrée A, Droog M, Grand Moursel L, Bisschop IJ, Impagliazzo A, Frants RR, Klooster R, van der Maarel SM, Self-regulated alternative splicing at the AHNAK locus. FASEB J. (2012).

165 164 Appendices

List of abbreviations

Aβ Amyloid beta

ARIA Amyloid-related imaging abnormalities BACE Beta-secretase

BOLD fMRI Blood-Oxygen-Level Dependent functional MRI BSA Bovine serum albumin

CAA Cerebral amyloid angiopathy

CADASIL Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

capCAA Capillary cerebral amyloid angiopathy

CARASIL Cerebral autosomal recessive arteriopathy with subcortical in-farcts and leukoencephalopathy

CNS Central nervous system

Col Collagen

CR1 Complement component receptor 1 gene CSF Cerebrospinal fluid

DAB 3,3’-Diaminobenzidine DEG differentially expressed gene

E Acid glutamic

ECM Extracellular matrix ECs endothelial cells EGCG Epigallocatechin-gallate ER Endoplasmic reticulum

FC Fold change

FDR False discovery rate FN1 Fibronectin FN1 Fibronectin GAG Glycosaminoglycan GFAP Glial fibrillary acidic protein

Gln Glutamine

Glu Acid glutamic

GSEA Gene Set Enrichment Analysis

Appendices HE Hematoxylin & eosin

HRP Horseradish peroxidase HSP Heat Shock Protein

HSPG Heparan sulphate proteoglycan ICH Intracerebral hemorrhages LOX Lysyl oxidase

MGE Multiple Gradient Echo MMP Matrix Metalloproteinase MRI Magnetic resonance imaging NBB Netherlands Brain Bank NDC Non-demented control NVU Neurovascular unit oAβs Oligomeric Aβ species OPN Osteopontin

PAI-1 Plasminogen activator inhibitor-1 PCA Principal component analysis PD Parkinson disease

PiB Pittsburgh compound B

PMD Post mortem delay

PS Presenilin

pSMAD2/3 phosphoSMAD2/3 pTau Hyperphosphorylated Tau

Q Glutamine

qPCR Quantitative reverse transcriptase-PCR RIN RNA integrity number

rRNA Ribosomal RNA RT Room temperature

sCAA Sporadic Cerebral amyloid angiopathy SD Standard deviation

SMAD Homolog of Drosophila mothers against decapentaplegic SMA Smooth muscle actin

SMC Smooth muscle cells SPP1 Secreted phosphoprotein 1

T Tesla

TE Echo time

TGFBRs TGFβ receptors

TGFβ Transforming growth factor β

TOMM40 Translocase of outer mitochondrial membrane 40

TR Repetition time

TSA Tyramide Signal Amplification tTG Tissue transglutaminase TUDCA Tauroursodeoxycholic acid

169 168

Appendices

Curriculum vitae

Laure Grand Moursel was born on the 18th _{of March, 1979, in Angouleme,}

Appendices

Acknowledgements

Writing the last chapter of this PhD thesis feels like turning a chapter in my life. Both exciting and frightening, both a relief and a sorrow… It is time to say goodbye and thank everybody!

First of all, this thesis would not have been possible without Louise, my co-promotor, who offered me the opportunity to graduate while already working in her group. Although challenging, I had the chance to meet and collaborate with international researchers in the CAA field which was totally new to me. Louise, thank you for your support in all my projects over the years, I particularly appreciated your scientific curiosity and your enthusiasm to explore new fields.

Then, these years of graduation and this thesis would not have been the same without the essential contribution of Willeke, my second co-promotor. Willeke, thank you for your continuous encouragements, your responsiveness and your positive thinking! I learnt a lot from you and I’m deeply grateful!

Next I‘m thankful to actual and former colleagues, mostly from human genetics at lab-f and lab-j who are too many to be named here, for their contribution to such a friendly working environment. I especially thank the Huntington group: Melvin, Lodewijk, Barry and Elena, thank you for your help and the nice co-working in the lab. I also warmly thank our radiology team, more specially Marjolein for her concern, help and wise advices, and Marc, Leon, Maarten, Tien, Boyd, Bauke and Ernst for having been such amazing colleagues!

Of course I do not forget Linda for her essential contribution to this work, her good mood and fantastic organization skills ‘’You’re so fast!!!’’. Linda, thank you for these years where we shared more than the daily work.

I also want to warmly thank Gerrit Kracht who worked on all the illustrations of this thesis.

Most importantly, my gratitude goes to Remy, my husband, who encouraged me in this adventure from its start and to Estelle, our daughter, to who I can finally answer ‘’yes, I finished my book’’! Their constant support is invaluable. I also want to thank here my family and friends for their encouragements.