Nervous System Diseases Commons^™

The Gifts, Kenneth P. Serbin

At Risk for Huntington's Disease

No abstract provided.

Naturally Occurring Carboxypeptidase A6 Mutations: Effect On Enzyme Function And Association With Epilepsy, Matthew R. Sapio, Annick Salzmann, Monique Vessaz, Arielle Crespel, Peter J. Lyons, Alain Malafosse, Lloyd D. Fricker

Faculty Publications

Carboxypeptidase A6 (CPA6) is a member of the A/B subfamily of M14 metallocarboxypeptidases that is expressed in brain and many other tissues during development. Recently, two mutations in human CPA6 were associated with febrile seizures and/or temporal lobe epilepsy. In this study we screened for additional CPA6 mutations in patients with febrile seizures and focal epilepsy, which encompasses the temporal lobe epilepsy subtype. Mutations found from this analysis as well as CPA6 mutations reported in databases of single nucleotide polymorphisms were further screened by analysis of the modeled proCPA6 protein structure and the functional role of the mutated amino acid. …

The Incredible Lightness – And Responsibility – Of Exiting The Huntington's Closet, Kenneth P. Serbin

At Risk for Huntington's Disease

No abstract provided.

Pharmacokinetics And Brain Uptake In The Rhesus Monkey Of A Fusion Protein Of Arylsulfatase A And A Monoclonal Antibody Against The Human Insulin Receptor, Ruben J. Boado, Jeff Zhiqiang Lu, Eric Ka-Wai Hui, Rachita K. Sumbria, William M. Pardridge

Pharmacy Faculty Articles and Research

Metachromatic leukodystrophy (MLD) is a lysosomal storage disorder of the brain caused by mutations in the gene encoding the lysosomal sulfatase, arylsulfatase A (ASA). It is not possible to treat the brain in MLD with recombinant ASA, because the enzyme does not cross the blood-brain barrier (BBB). In the present investigation, a BBB-penetrating IgG-ASA fusion protein is engineered and expressed, where the ASA monomer is fused to the carboxyl terminus of each heavy chain of an engineered monoclonal antibody (MAb) against the human insulin receptor (HIR). The HIRMAb crosses the BBB via receptor-mediated transport on the endogenous BBB insulin receptor, …

Hdsa’S Renewed Commitment To Critical Research, Kenneth P. Serbin

At Risk for Huntington's Disease

No abstract provided.

Designing The Best Drug Possible To Defeat Huntington's Disease, Kenneth P. Serbin

At Risk for Huntington's Disease

No abstract provided.

The Definitive Step Out Of The Huntington’S Closet, Kenneth P. Serbin

At Risk for Huntington's Disease

No abstract provided.

Hope Of Clinical Trials Creates New, Proactive Outlook On Huntington's Disease, Kenneth P. Serbin

At Risk for Huntington's Disease

No abstract provided.

Lifting Huntington’S Families’ Spirits With The Promise Of Clinical Trials, Kenneth P. Serbin

At Risk for Huntington's Disease

No abstract provided.

Superterry Destroys The Evil Monster Huntington’S Disease, Kenneth P. Serbin

At Risk for Huntington's Disease

No abstract provided.

Playing In The Fourth Quarter Of Life As Huntington's Disease Looms, Kenneth P. Serbin

At Risk for Huntington's Disease

No abstract provided.

California Stem Cell Agency Approves $19 Million Clinical Trial Project As Huntington's Disease Families 'Change The Course Of Science', Kenneth P. Serbin

At Risk for Huntington's Disease

No abstract provided.

Exogenous Alpha-Synuclein Induces Cell Death Related Proteins In C6 Oligodendrocyte-Like Cells Corresponding To Protein Expression Observed In Multiple System Atrophy, Derrick Samuel Hilton

Dissertations

Multiple System Atrophy (MSA) consists of three disorders; Autonomic Dysfunction, Cerebellar Ataxia, and Parkinsonism. In MSA, the protein Alpha-Synuclein (SNCA) appears in the central nervous system as misfolded protein aggregates primarily in oligodendrocytes. This dissertation reports the results from studies examining the effect of exogenous SNCA has on a cell model: C6 oligodendrocyte-like cells. Treated cells were evaluated using western blot and DNA microarray. In addition the expression of proteins was evaluated using immunocytochemistry in MSA patient tissue.

C6 cells were shown to take up SNCA when added to the media. SNCA also underwent a truncation when taken up by …

The Wholehearted Embrace: My First Hdsa Convention, Kenneth P. Serbin

At Risk for Huntington's Disease

No abstract provided.

Yale’S Partnership Against Huntington’S Disease: An Alumnus Reconnects And Finds Hope As Scientists Pursue 'Viagra For The Brain' And Other Solutions, Kenneth P. Serbin

At Risk for Huntington's Disease

No abstract provided.

A Compassionate Allowance, And Faster Social Security Benefits, For The Juvenile Huntington's Disease Community: A Key Step For Advocacy, Kenneth P. Serbin

At Risk for Huntington's Disease

No abstract provided.

Development Of A Microfluidic Device Coupled To Microdialysis Sampling For The Pre-Concentration Of Cytokines, Randy Francisco Espinal Cabrera

Graduate Theses and Dissertations

A proof-of-concept microfluidic device combined with heparin-immobilized magnetic beads was created to concentrate cytokine proteins collected from microdialysis samples. Cytokines are known to be related to several diseases such as cancer, and Parkinson's diseases, so to be able to develop more effective diseases treatments their interactions have to be well understood. Amine-functionalized polystyrene and carboxyl-functionalized magnetic microspheres of ~6.0 ìm in diameter were used to immobilize heparin. The amount of heparin immobilized on polystyrene beads was 5.82 x 10-8 ± 0.36 x 10-8 M per 1.0 x 106 beads and for magnetic beads was 0.64 x 10-8 ± 0.01 x …

Improved Techniques For Acquisition And Analysis Of Dynamic Contrast-Enhanced Magnetic Resonance Imaging For Detecting Vascular Permeability In The Central Nervous System, Cheukkai Hui

Dissertations and Theses (Open Access)

Dynamic contrast-enhanced magnetic resonance imaging (DCE-MRI) is a noninvasive technique for quantitative assessment of the integrity of blood-brain barrier and blood-spinal cord barrier (BSCB) in the presence of central nervous system pathologies. However, the results of DCE-MRI show substantial variability. The high variability can be caused by a number of factors including inaccurate T1 estimation, insufficient temporal resolution and poor contrast-to-noise ratio. My thesis work is to develop improved methods to reduce the variability of DCE-MRI results. To obtain fast and accurate T1 map, the Look-Locker acquisition technique was implemented with a novel and truly centric k-space segmentation scheme. In …

Novel Use Of Dual Anti-Inflammatory Therapy To Overcome Drug Resistance And Improve Functional Recovery Following Spinal Cord Injury, Jennifer Dulin

Dissertations and Theses (Open Access)

Over 1.2 million Americans are currently living with a traumatic spinal cord injury (SCI). Despite the need for effective therapies, there are currently no proven effective treatments that can improve recovery of function in SCI patients. Many therapeutic compounds have shown promise in preclinical models of SCI, but all of these have fallen short in clinical trials.

P-glycoprotein (Pgp) is an active transporter expressed on capillary endothelial cell membranes at the blood-spinal cord barrier (BSCB). Pgp limits passive diffusion of blood-borne drugs into the CNS, by actively extruding drugs from the endothelial cell membrane. Pgp can become pathologically up-regulated, thus …

Parkinson’S Disease: Molecular Mechanisms And Treatments, Delia Vahey

Senior Honors Theses

Parkinson’s disease is a motor system disorder that is caused primarily by the loss of dopamine-producing brain cells. The most affected brain structure is the pars compacta of the substantia nigra. This area of the brain is essential to the control of voluntary movement, and so its impairment leads to symptoms such as tremors, rigidity, and impaired balance. The neuronal protein alpha-synuclein has been shown to be heavily involved in the pathogenesis of the disease at the cellular level. The currently available treatments for PD mainly target dopamine regulation, and there been no cure developed for the disease at present. …

From A Paralyzed Genius, Lessons Of Determination And Caregiving For The Huntington's Community, Kenneth P. Serbin

At Risk for Huntington's Disease

No abstract provided.

Binding Efficacy Of Different Polyphenolic Phytochemicals With Β-Lactoglobulin And Human Serum Albumin: Implication For Therapeutics Against Neurodegenerative Diseases, Rene Duran^, Andres Ortiz^, Mahesh Narayan*, Vladik Kreinovich*

COURI Symposium Abstracts, Spring 2012

No abstract provided.

The Team Hope Walk: Reinforcing The First Line Of Defense Against Huntington's Disease, Kenneth P. Serbin

At Risk for Huntington's Disease

No abstract provided.

Biotinidase Deficiency In Pakistani Children; What Needs To Be Known And Done, Bushra Afroze, Mohammad Wasay

Department of Medicine

No abstract provided.

A New, More Holistic View Of Huntington’S Disease: The Systems/P4 Approach, Kenneth P. Serbin

At Risk for Huntington's Disease

No abstract provided.

The First Dose Is Hope: Moving Towards Treatments For Huntington's Disease, Kenneth P. Serbin

At Risk for Huntington's Disease

No abstract provided.

Top Researcher: ‘Genuine Optimism’ About Treatments For Huntington's Disease, Kenneth P. Serbin

At Risk for Huntington's Disease

No abstract provided.

It’S Time For The Huntington’S Community To Speak Out - And Hdsa Is Listening, Kenneth P. Serbin

At Risk for Huntington's Disease

No abstract provided.

The Quandary Of Denial In The Huntington’S Disease Community (Part Ii), Kenneth P. Serbin

At Risk for Huntington's Disease

No abstract provided.

The Quandary Of Denial In The Huntington’S Disease Community (Part I), Kenneth P. Serbin

At Risk for Huntington's Disease

No abstract provided.