Chun-Hung Chan

Chun-Hung Chan
Sanford Health

Doctor of Philosophy

About

28
Publications
3,531
Reads
How we measure 'reads'
A 'read' is counted each time someone views a publication summary (such as the title, abstract, and list of authors), clicks on a figure, or views or downloads the full-text. Learn more
1,052
Citations
Citations since 2017
5 Research Items
335 Citations
20172018201920202021202220230204060
20172018201920202021202220230204060
20172018201920202021202220230204060
20172018201920202021202220230204060

Publications

Publications (28)
Article
Full-text available
Rare disease patients face many challenges including diagnostic delay, misdiagnosis and lack of therapies. However, early access to diagnosis and therapies can modify the management and the progression of diseases, which in return positively impacts patients, families and health care systems. The International Rare Diseases Research Consortium set...
Article
Full-text available
Background Rare diseases (RD) are a diverse collection of more than 7–10,000 different disorders, most of which affect a small number of people per disease. Because of their rarity and fragmentation of patients across thousands of different disorders, the medical needs of RD patients are not well recognized or quantified in healthcare systems (HCS)...
Article
Full-text available
Aim: The ambitious goals set by the International Rare Diseases Research Consortium (IRDiRC) by 2027 to fulfill the vision of providing diagnosis and treatments to rare diseases (RDs) patients within one year of coming to medical attention have been challenged by the COVID-19 pandemic. This article aims to identify the needs and challenges of the R...
Article
Full-text available
Loss of the NF1 tumor suppressor gene causes the autosomal dominant condition, neurofibromatosis type 1 (NF1). Children and adults with NF1 suffer from pathologies including benign and malignant tumors to cognitive deficits, seizures, growth abnormalities, and peripheral neuropathies. NF1 encodes neurofibromin, a Ras-GTPase activating protein, and...
Article
Cancer therapy exerts a strong selection pressure that shapes tumor evolution. Recent studies have demonstrated high rates of concordance between primary tumor and recurrences. The main objective of our study was to demonstrate the molecular evolution of breast cancer using next-generation sequencing (NGS) across various time points during treatmen...
Article
Cancer therapy exerts a strong selection pressure that shapes tumor evolution. Recent studies have demonstrated high rates of concordance (greater than 80%) between primary tumor and recurrences. The main objective of our study was to demonstrate the molecular evolution of breast cancer using next-generation sequencing (NGS) at initial diagnosis an...
Article
The neuronal ceroid lipofuscinoses (NCLs) are a group of neurodegenerative genetic diseases that primarily affect children and have no known cure. A unified clinical rating scale for the juvenile form of NCL (JNCL) has been developed, but it has not been validated in other subtypes and does not give a true measure of the pathophysiological changes...
Article
Full-text available
Ataxia telangiectasia (AT) is a progressive multisystem disorder caused by mutations in the AT-mutated (ATM) gene. AT is a neurodegenerative disease primarily characterized by cerebellar degeneration in children leading to motor impairment. The disease progresses with other clinical manifestations including oculocutaneous telangiectasia, immune dis...
Article
Full-text available
Recent years have seen a great many natural disasters-superstorms, droughts, earthquakes, among others-as well as, in the biobanking world, the constant threat of man-made disaster with everything from freezer malfunctions to theft. To help inform the increasingly important issue of protection from, and recovery after, disasters, Biopreservation an...
Article
Full-text available
Juvenile CLN3 disease (formerly known as juvenile neuronal ceroid lipofuscinosis) is a fatal childhood neurodegenerative disorder caused by mutations in the CLN3 gene. CLN3 encodes a putative lysosomal transmembrane protein with unknown function. Previous cell culture studies using CLN3-overexpressing vectors and/or anti-CLN3 antibodies with questi...
Data
A fraction of myc-CLN3 is localized to late endosomes. BHK clone 19 myc-CLN3 expressing cells were grown under isotonic (300 mOsm) conditions. Late endosomes were pulse-chase labeled according to a method developed to label late endosomes in BHK cells [57]. Cells grown on poly-D-lysine coated coverslips were incubated with Alexa Fluor 488-labeled d...
Article
Neuronal ceroid lipofuscinosis (NCL), commonly referred to as Batten disease, is a group of autosomal recessive neurodegenerative diseases of childhood characterized by seizures, blindness, motor and cognitive decline, and premature death. Currently, there are over 400 known mutations in fourteen different genes, leading to five overlapping clinica...
Article
Full-text available
BTN1, the yeast homolog to human CLN3 (which is defective in Batten disease), has been implicated in the regulation of vacuolar pH, potentially by modulating vacuolar-type H(+)-ATPase (V-ATPase) activity. However, we report that Btn1p and the V-ATPase complex do not physically interact, suggesting that any influence that Btn1p has on V-ATPase is in...
Article
Autoantibodies to brain proteins are present in Juvenile Neuronal Ceroid Lipofuscinosis (Batten disease) patients and in the Cln3-/- mouse model of this disease, suggesting an autoimmune component to pathogenesis. Using genetic or pharmaceutical approaches to attenuate this immune response in Cln3-/- mice, we demonstrate decreased neuroinflammation...
Article
Full-text available
Neuronal ceroid lipofuscinoses (NCLs; Batten disease) are collectively the most frequent autosomal-recessive neurodegenerative disease of childhood, but the underlying cellular and molecular mechanisms remain unclear. Several lines of evidence have highlighted the important role that non-somatic compartments of neurons (axons and synapses) play in...
Article
Juvenile neuronal ceroid lipofuscinoses (JNCL) or juvenile Batten disease is a recessively inherited childhood neurodegenerative disorder resulting from a mutation in CLN3, which encodes a putative lysosomal protein of unknown function. Recent evidence suggests that a disruption in CLN3 function results in altered regulation of arginine transport i...
Article
Juvenile neuronal ceroid lipofuscinosis (JNCL), also known as Batten disease, is a fatal inherited neurodegenerative disorder. The major clinical features of this disease are vision loss, seizures and progressive cognitive and motor decline starting in childhood. Mutations in CLN3 are known to cause the disease, allowing the generation of mouse mod...
Article
Full-text available
Juvenile neuronal ceroid lipofuscinoses (JNCL), commonly known as Batten disease, is a progressive neurodegenerative disorder of childhood characterized by blindness, seizures, motor and cognitive decline, leading to death in early adulthood. Mutations within the CLN3 gene, which encodes a putative lysosomal protein of unknown function, are the und...
Article
The neuronal ceroid lipofuscinoses (NCL) are the most common childhood neurodegenerative disorders with a worldwide incidence of up to 1 in 12, 500 live births. Various subtypes have been described on a clinical and genetic level, with mutations in one of at least eight genes, termed CLN1-8, forming the molecular basis of the disease. Since mutatio...
Article
Cajal-Retzius (CR) cells are among the earliest generated population of neurons in the developing neocortex and have been implicated in regulating cortical lamination. In rodents, CR cells are transient, being present only up to 2-3 weeks after birth. Although previous electrophysiological studies have demonstrated the presence of NMDA and GABAA re...
Article
Full-text available
Emx2 knockout mice appear to show a shift in the areal identity in the cerebral cortex , which is matched with altered distribution of thalamocortical projections (Bishop et al. [2000] Science 288:344-349; Mallamaci et al. [2000] Nat Neurosci. 3:679-686) [corrected]. We have examined the early establishment of these projections to understand how th...
Article
Full-text available
The homeobox-containing gene, Emx1, a mouse homologue of Drosophila empty spiracles, is specifically expressed in the developing telencephalic cortex. It has been reported that Emx1 transcripts and the protein product are localized in most cells of the cerebral cortex during the process of proliferation, migration, differentiation and maturation. W...
Article
Cortical nonpyramidal cells, the GABA-containing interneurons, originate mostly in the medial ganglionic eminence of the ventral telencephalon and follow tangential migratory routes to reach the dorsal telencephalon. Although several genes that play a role in this migration have been identified, the underlying cellular and molecular cues are not fu...
Thesis
The homeobox genes Emx1 and Emx2 are mouse homologues of the Drosophila empty spiracles gene, which has been shown to be important in the development of the Drosophila nervous system. Previous studies have demonstrated the expression of Emx1 and Emx2 in overlapping regions of the developing forebrain, specifically in the neocortex and hippocampus....
Article
Full-text available
The specification of area identities in the cerebral cortex is a complex process, primed by intrinsic cortical cues and refined after the arrival of afferent fibers from the thalamus. Little is known about the genetic control of the early steps of this process, but the distinctive expression pattern of the homeogene Emx2 in the developing cortex ha...

Network

Cited By

Projects

Project (1)