Nicole van Bergen

Mutations in the exocyst component EXOC2 cause severe defects in human brain development.

Nicole J Van Bergen, Syed Mukhtar Ahmed, Felicity Collins, Mark Cowley, Annalisa Vetro, Russell C Dale, Daniella H Hock, Christian de Caestecker, Minal Menezes, Sean Massey, Gladys Ho, Tiziana Pisano, Seana Glover, Jovanka Gusman, David A Stroud, Marcel Dinger, Renzo Guerrini, Ian G Macara, John Christodoulou

Journal article  |  2020  |  Journal of Experimental Medicine

The exocyst, an octameric protein complex, is an essential component of the membrane transport machinery required for tethering an..

OXPHOS bioenergetic compensation does not explain disease penetrance in Leber hereditary optic neuropathy.

M Isabel G Lopez Sanchez, Nicole J Van Bergen, Lisa S Kearns, Mark Ziemann, Helena Liang, Alex W Hewitt, David A Mackey, Ian A Trounce

Journal article  |  2020  |  Mitochondrion

Leber hereditary optic neuropathy (LHON) is one of the most common primary mitochondrial diseases. It is caused by point mutations..

Reply: NAD(P)HX dehydratase protein-truncating mutations are associated with neurodevelopmental disorder exacerbated by acute illness.

Nicole J Van Bergen, Carole L Linster, John Christodoulou

Journal article  |  2020  |  Brain

Bi-allelic LoF NRROS Variants Impairing Active TGF-beta 1 Delivery Cause a Severe Infantile-Onset Neuro degenerative Condition with Intracranial Calcification

Xiaomin Dong, Natalie B Tan, Katherine B Howell, Sabina Barresi, Jeremy L Freeman, Davide Vecchio, Maria Piccione, Francesca Clementina Radio, Daniel Calame, Shan Zong, Stefanie Eggers, Ingrid E Scheffer, Tiong Y Tan, Nicole J Van Bergen, Marco Tartaglia, John Christodoulou, Susan M White

Journal article  |  2020  |  The American Journal of Human Genetics

Negative regulator of reactive oxygen species (NRROS) is a leucine-rich repeat-containing protein that uniquely associates with la..

Reply: Recurrent bi-allelic splicing variant c.454 3A > G in TRAPPC4 is associated with progressive encephalopathy and muscle involvement

Nicole J Van Bergen, John Christodoulou

Journal article  |  2020  |  Brain : a journal of neurology

TRAPPing a neurological disorder: from yeast to humans

Zhanna Lipatova, Nicole Van Bergen, Daniela Stanga, Michael Sacher, John Christodoulou, Nava Segev

Journal article  |  2020  |  Autophagy

Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability

Nicole J Van Bergen, Yiran Guo, Noraldin Al-Deri, Zhanna Lipatova, Daniela Stanga, Sarah Zhao, Rakhilya Murtazina, Valeriya Gyurkovska, Davut Pehlivan, Tadahiro Mitani, Alper Gezdirici, Jayne Antony, Felicity Collins, Mary JH Willis, Zeynep H Coban Akdemir, Pengfei Liu, Jaya Punetha, Jill V Hunter, Shalini N Jhangiani, Jawid M Fatih, et al.

Journal article  |  2020  |  Brain

The conserved transport protein particle (TRAPP) complexes regulate key trafficking events and are required for autophagy. TRAPPC4..

Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome-like patient

Simranpreet Kaur, Nicole J Van Bergen, Wendy Anne Gold, Stefanie Eggers, Sebastian Lunke, Susan M White, Carolyn Ellaway, John Christodoulou

Journal article  |  2019  |  CLINICAL CASE REPORTS

Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic PNPT1 Variants

Rocio Rius, Nicole J Van Bergen, Alison G Compton, Lisa G Riley, Maina P Kava, Shanti Balasubramaniam, David J Amor, Miriam Fanjul-Fernandez, Mark J Cowley, Michael C Fahey, Mary K Koenig, Gregory M Enns, Simon Sadedin, Meredith J Wilson, Tiong Y Tan, David R Thorburn, John Christodoulou

Journal article  |  2019  |  Journal of Clinical Medicine

PNPT1 (PNPase-polynucleotide phosphorylase) is involved in multiple RNA processing functions in the mitochondria. Bi-allelic patho..

Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements

Bitten Schonewolf-Greulich, Anne-Marie Bisgaard, Morten Duno, Cathrine Jespersgaard, Mette Rokkjaer, Lars K Hansen, Eirini Tsoutsou, Christalena Sofokleous, Meral Topcu, Simran Kaur, Nicole J Van Bergen, Karen Brondum-Nielsen, Martin J Larsen, Kristina P Sorensen, John Christodoulou, Christina R Fagerberg, Zeynep Tumer

Journal article  |  2019  |  Clinical Genetics

Clinician's guide to genes associated with Rett-like phenotypes-Investigation of a Danish cohort and review of the literature

B Schonewolf-Greulich, A-M Bisgaard, RS Moller, M Duno, K Brondum-Nielsen, S Kaur, NJ Van Bergen, S Lunke, S Eggers, C Jespersgaard, J Christodoulou, Z Tumer

Journal article  |  2019  |  Clinical Genetics

NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses

Nicole J Van Bergen, Yiran Guo, Julia Rankin, Nicole Paczia, Julia Becker-Kettern, Laura S Kremer, Angela Pyle, Jean-Francois Conrotte, Carolyn Ellaway, Peter Procopis, Kristina Prelog, Tessa Homfray, Julia Baptista, Emma Baple, Matthew Wakeling, Sean Massey, Daniel P Kay, Anju Shukla, Katta M Girisha, Leslie ES Lewis, et al.

Journal article  |  2019  |  Brain

Cryptic intronic NBAS variant reveals the genetic basis of recurrent liver failure in a child

Rocio Rius, Lisa G Riley, Yiran Guo, Minal Menezes, Alison G Compton, Nicole J Van Bergen, Velimir Gayevskiy, Mark J Cowley, Beryl B Cummings, Louisa Adams, Carolyn Ellaway, David R Thorburn, Hakon Hakonarson, John Christodoulou

Journal article  |  2019  |  Molecular Genetics and Metabolism

Mitochondrial DNA Variation and Disease Susceptibility in Primary Open-Angle Glaucoma

Larry N Singh, Jonathan G Crowston, M Isabel G Lopez Sanchez, Nicole J Van Bergen, Lisa S Kearns, Alex W Hewitt, Seyhan Yazar, David A Mackey, Douglas C Wallace, Ian A Trounce

Journal article  |  2018  |  Investigative Opthalmology & Visual Science

Mitochondrial replacement in an iPSC model of Leber's hereditary optic neuropathy

Raymond CB Wong, Shiang Y Lim, Sandy SC Hung, Stacey Jackson, Shahnaz Khan, Nicole J Van Bergen, Elisabeth De Smit, Helena H Liang, Lisa S Kearns, Linda Clarke, David A Mackey, Alex W Hewitt, Ian A Trounce, Alice Pebay

Journal article  |  2017  |  AGING-US

Mapping time-course mitochondrial adaptations in the kidney in experimental diabetes

Melinda T Coughlan, Nguyen Tuong-Vi, Sally A Penfold, Gavin C Higgins, Vicki Thallas-Bonke, Sih Min Tan, Nicole J Van Bergen, Karly C Sourris, Brooke E Harcourt, David R Thorburn, Ian A Trounce, Mark E Cooper, Josephine M Forbes

Journal article  |  2016  |  Clinical Science

Characterization of the retinal pigment epithelium in Friedreich ataxia.

Duncan E Crombie, Nicole Van Bergen, Kathryn C Davidson, Sara Anjomani Virmouni, Penny A Mckelvie, Vicki Chrysostomou, Alison Conquest, Louise A Corben, Mark A Pook, Tejal Kulkarni, Ian A Trounce, Martin F Pera, Martin B Delatycki, Alice Pébay

Journal article  |  2015  |  Biochemistry and Biophysics Reports

We assessed structural elements of the retina in individuals with Friedreich ataxia (FRDA) and in mouse models of FRDA, as well as..

Deficiency in Apoptosis Inducing Factor Recapitulates Diabetic Nephropathy via Aberrant Mitochondrial Homeostasis

Melinda T Coughlan, Gavin C Higgins, Tuong-Vi Nguyen, Sally A Penfold, Vicki Thallas-Bonke, Sih Min Tan, Georg Ramm, Nicole J Van Bergen, Darren C Henstridge, Ian A Trounce, Karly C Sourris, Brooke E Harcourt, Portia M Robb, Adrienne Laskowski, Sean L Mcgee, Ken Walder, Paul Gregorevic, Hongwei Qian, Merlin C Thomas, Brian G Drew, et al.

Conference Proceedings  |  2015  |  DIABETES

Directing human induced pluripotent stem cells into a neurosensory lineage for auditory neuron replacement.

Niliksha Gunewardene, Nicole Van Bergen, Duncan Crombie, Karina Needham, Mirella Dottori, Bryony A Nayagam

Journal article  |  2014  |  BioResearch Open Access

Emerging therapies for sensorineural hearing loss include replacing damaged auditory neurons (ANs) using stem cells. Ultimately, i..

Oxidative phosphorylation measurement in cell lines and tissues

Nicole J Van Bergen, Rachel E Blake, Jonathan G Crowston, Ian A Trounce

Journal article  |  2014  |  Mitochondrion

MITOCHONDRIAL IMPAIRMENT AND VULNERABILITY OF THE OPTIC NERVE TO INJURY

Ian A Trounce, Nicole Van Bergen, Vicki Chrysostomou, Rachel Blake, Jonathan Crowston

Conference Proceedings  |  2013  |  CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY

AGEING AND OPTIC NERVE VULNERABILITY TO INJURY

Jonathan Crowston, Vicki Chrysostomou, Nicole Van Bergen, Eamonn Fahy, Ian Trounce

Conference Proceedings  |  2013  |  CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY

Impact of aging and diet restriction on retinal function during and after acute intraocular pressure injury

Yu Xiang George Kong, Nicole van Bergen, Bang V Bui, Vicki Chrysostomou, Algis J Vingrys, Ian A Trounce, Jonathan G Crowston

Journal article  |  2012  |  Neurobiology of Aging

Impaired Complex-I-Linked Respiration and ATP Synthesis in Primary Open-Angle Glaucoma Patient Lymphoblasts

Shanjean Lee, Leo Sheck, Jonathan G Crowston, Nicole J Van Bergen, Evelyn C O'Neill, Fleur O'Hare, Yu Xiang George Kong, Vicki Chrysostomou, Andrea L Vincent, Ian A Trounce

Journal article  |  2012  |  Investigative Ophthalmology and Visual Science

Increase in mitochondrial DNA mutations impairs retinal function and renders the retina vulnerable to injury

Yu XG Kong, Nicole Van Bergen, Ian A Trounce, Bang V Bui, Vicki Chrysostomou, Hayley Waugh, Algis Vingrys, Jonathan G Crowston

Journal article  |  2011  |  AGING CELL

Mitochondrial dysfunction in glaucoma and emerging bioenergetic therapies

Shanjean Lee, Nicole J Van Bergen, George Y Kong, Vicki Chrysostomou, Hayley S Waugh, Evelyn C O'Neill, Jonathan G Crowston, Ian A Trounce

Journal article  |  2011  |  Experimental Eye Research