Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy.

Coenzyme A (CoA) is an essential metabolic cofactor used by around 4% of cellular enzymes. Its role is to carry and transfer acetyl and acyl groups to other molecules. Cells can synthesize CoA de novo from vitamin B5 (pantothenate) through five consecutive enzymatic steps.

Phase Separation of C9orf72 Dipeptide Repeats Perturbs Stress Granule Dynamics.

Liquid-liquid phase separation (LLPS) of RNA-binding proteins plays an important role in the formation of multiple membrane-less organelles involved in RNA metabolism, including stress granules. Defects in stress granule homeostasis constitute a cornerstone of ALS/FTLD pathogenesis. Polar residues (tyrosine and glutamine) have been previously demonstrated to be critical for phase separation of ALS-linked stress granule proteins.

Immunization with hepatitis B vaccine accelerates SLE-like disease in a murine model.

Hepatitis-B vaccine (HBVv) can prevent HBV-infection and associated liver diseases. However, concerns regarding its safety, particularly among patients with autoimmune diseases (i.e.

[Rituximab (Mabthera) for treatment of rare autoimmune bullous skin disorders].

Autoimmune bullous skin disorders are characterized by a severe and potentially lethal course and may require aggressive long-term treatment with systemic corticosteroids and other immunosuppressive drugs, which can lead to serious adverse events. Recently, anti-CD20 antibody, Rituximab, was reported to be beneficial as an adjuvant therapy in these diseases. Herein, we present 2 case reports of patients suffering from resistant rare diseases from the aforementioned spectrum: linear IgA dermatosis and Pemphigoid gestationis.

Development of a microfluidic device for detection of pathogens in oral samples using upconverting phosphor technology (UPT).

Confirmatory detection of diseases, such as HIV and HIV-associated pathogens in a rapid point-of-care (POC) diagnostic remains a goal for disease control, prevention, and therapy. If a sample could be analyzed onsite with a verified result, the individual could be counseled immediately and appropriate therapy initiated. Our group is focused on developing a microfluidic "lab-on-a-chip" that will simultaneously identify antigens, antibodies, RNA, and DNA using a single oral sample.