Nicole van Bergen

Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma.

Nicole J Van Bergen, Karen Gunanayagam, Adam M Bournazos, Adhish S Walvekar, Marc O Warmoes, Liana N Semcesen, Sebastian Lunke, Shobhana Bommireddipalli, Tim Sikora, Myrto Patraskaki, Dean L Jones, Denisse Garza, Dale Sebire, Samuel Gooley, Catriona A McLean, Parm Naidoo, Mugil Rajasekaran, David A Stroud, Carole L Linster, Mathew Wallis, et al.

Journal article  |  2023  |  Int J Mol Sci

We have previously reported that pathogenic variants in a key metabolite repair enzyme NAXD cause a lethal neurodegenerative condi..

Expanding the Allelic Heterogeneity of ANO10-Associated Autosomal Recessive Cerebellar Ataxia

Sean Massey, Yiran Guo, Lisa G Riley, Nicole J Van Bergen, Sarah A Sandaradura, Elizabeth McCusker, Michel Tchan, Christel Thauvin-Robinet, Quentin Thomas, Thibault Moreau, Mark Davis, Daphne Smits, Grazia MS Mancini, Hakon Hakonarson, Sandra Cooper, John Christodoulou

Journal article  |  2023  |  NEUROLOGY-GENETICS

BACKGROUND AND OBJECTIVES: The term autosomal recessive cerebellar ataxia (ARCA) encompasses a diverse group of heterogeneous dege..

CDKL5 deficiency disorder: molecular insights and mechanisms of pathogenicity to fast-track therapeutic development

Nicole J Van Bergen, Sean Massey, Anita Quigley, Ben Rollo, Alexander R Harris, Robert MI Kapsa, John Christodoulou

Journal article  |  2022  |  BIOCHEMICAL SOCIETY TRANSACTIONS

CDKL5 deficiency disorder (CDD) is an X-linked brain disorder of young children and is caused by pathogenic variants in the cyclin..

Clinical and biochemical distinctions for a metabolite repair disorder caused by NAXD or NAXE deficiency

Nicole J Van Bergen, Adhish S Walvekar, Myrto Patraskaki, Tim Sikora, Carole L Linster, John Christodoulou

Journal article  |  2022  |  JOURNAL OF INHERITED METABOLIC DISEASE

The central cofactors NAD(P)H are prone to damage by hydration, resulting in formation of redox-inactive derivatives designated NA..

Reply: Niacin therapy improves outcome and normalizes metabolic abnormalities in an NAXD-deficient patient

Nicole J Van Bergen, Adhish S Walvekar, Carole L Linster, John Christodoulou

Journal article  |  2022  |  BRAIN

Biallelic Variants in PYROXD2 Cause a Severe Infantile Metabolic Disorder Affecting Mitochondrial Function

Nicole J Van Bergen, Daniella H Hock, Lucy Spencer, Sean Massey, Tegan Stait, Zornitza Stark, Sebastian Lunke, Ain Roesley, Heidi Peters, Joy Yaplito Lee, Anna Le Fevre, Oliver Heath, Cristina Mignone, Joseph Yuan-Mou Yang, Monique M Ryan, Colleen D'Arcy, Margot Nash, Sile Smith, Nikeisha J Caruana, David R Thorburn, et al.

Journal article  |  2022  |  INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Pyridine Nucleotide-Disulfide Oxidoreductase Domain 2 (PYROXD2; previously called YueF) is a mitochondrial inner membrane/matrix-r..

Pathogenic variants in nucleoporin TPR (translocated promoter region, nuclear basket protein) cause severe intellectual disability in humans

Nicole J Van Bergen, Katrina M Bell, Kirsty Carey, Russell Gear, Sean Massey, Edward K Murrell, Lyndon Gallacher, Kate Pope, Paul J Lockhart, Andrew Kornberg, Lynn Pais, Marzena Walkiewicz, Cas Simons, Mcri Rare Diseases Flagship, Vihandha O Wickramasinghe, Susan M White, John Christodoulou

Journal article  |  2021  |  HUMAN MOLECULAR GENETICS

The nuclear pore complex (NPC) is a multi-protein complex that regulates the trafficking of macromolecules between the nucleus and..

Abnormalities of mitochondrial dynamics and bioenergetics in neuronal cells from CDKL5 deficiency disorder

Nicole J Van Bergen, Sean Massey, Tegan Stait, Molly Ellery, Boris Reljic, Luke E Formosa, Anita Quigley, Mirella Dottori, David Thorburn, David A Stroud, John Christodoulou

Journal article  |  2021  |  NEUROBIOLOGY OF DISEASE

CDKL5 deficiency disorder (CDD) is a rare neurodevelopmental disorder caused by pathogenic variants in the Cyclin-dependent kinase..

Biallelic loss-of-function NRROS variants impairing active TGF-ss 1 delivery cause a severe infantile onset neurodegenerative condition with intracranial calcification

X Dong, NB Tan, KB Howell, S Barresi, L Freeman, D Vecchio, M Piccione, F Clementina Radio, D Calame, S Zong, S Eggers, IE Scheffer, TY Tan, NJ Van Bergen, M Tartaglia, J Christodoulou, SM White

Conference Proceedings  |  2020  |  EUROPEAN JOURNAL OF HUMAN GENETICS

Nox4 Facilitates TGF beta 1-Induced Fibrotic Response in Human Tenon's Fibroblasts and Promotes Wound Collagen Accumulation in Murine Model of Glaucoma Filtration Surgery

Manisha H Shah, Elsa C Chan, Nicole J Van Bergen, Surinder S Pandav, Sze Ng, Jonathan G Crowston, Hitesh M Peshavariya

Journal article  |  2020  |  ANTIOXIDANTS

Collagen accumulation in sub-conjunctival tissue at the surgical wound is one of the major complications associated with glaucoma ..