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Lysosomal storage disorders (LSDs) - Biotech, Pharma and Life Science Channel

00:47 EST 22nd November 2017 | BioPortfolio

Lysosomal storage disorders (LSDs) represent a group of about 50 genetic disorders caused by deficiencies of lysosomal proteins. Most involve genetic mutations causing loss of function of key catabolic enzymes residing in the lysosome that are involved in the degradation of macromolecules. The missing lysosomal protein causes a build-up of toxic metabolites in the cells of patients, leading to progressive multisystem disease and premature death. Although individually rare, the combined prevalence of all lysosomal disorders is estimated to be 1 in 8000 births.

Enzyme Replacement Therapy involves restoration of the missing enzyme through periodic intravenous infusion of recombinant enzyme. Exogenously administered lysosomal enzyme re is taken up in cells through cell-surface mannose-6-phosphare receptors, and transported to the lysosome in order to degrade the toxic build-up of accumulated metabolite.

PubMed Articles [7042 Associated PubMed Articles listed on BioPortfolio]

Synthesis and characterization of alkylated caseinate, and its structure-curcumin loading property relationship in water.

Alkylated caseinates (Cn-caseinates) containing selected C8-C16 alkyl groups were successfully synthesized through a two-step reaction between the protein and fatty acids. The substitution degree (SD)...

Targeted secondary metabolic and physico-chemical traits analysis to assess genetic variability within a germplasm collection of "long storage" tomatoes.

"Long storage" tomato is a crop traditionally cultivated in the Mediterranean area under no water supply, that recently has attracted the interest of breeders for its high tolerance to drought and as ...

Pathophysiology of Nonalcoholic Fatty Liver Disease/Nonalcoholic Steatohepatitis.

Nonalcoholic fatty liver disease (NAFLD) encompasses a spectrum of liver disorders ranging from hepatic steatosis to nonalcoholic steatohepatitis (NASH) and ultimately may lead to cirrhosis. Hepatic s...

Thoracic Surgery Considerations in the Child and Young Adult.

Vascular rings and slings may represent life-threatening compression of the esophagus and trachea. Such anatomic variants, although rare, are encountered by all thoracic surgeons in the scope of their...

Migration of Salmonella serotypes Heidelberg and Enteritidis in previously frozen chicken breast meat.

Salmonella spp. have been shown to migrate to the internal regions of meat cuts. Storage conditions and the presence of proteolytic microbiota can influence this process. Our study assessed the impact...

Microbiological stabilization of tiger nuts' milk beverage using ultra-high pressure homogenization. A preliminary study on microbial shelf-life extension.

Tiger nuts' milk beverages are highly perishable products. For this reason, the interest of food industry for their commercialization makes necessary the application of preservation treatments to prol...

Viability of and Escherichia coli O157:H7 and Listeria monocytogenes in a delicatessen appetizer (yogurt-based) salad as affected by citrus extract (Citrox(©)) and storage temperature.

The antimicrobial effect of citrus extract (at 1 mL/kg [C1] and 2 mL/kg [C2]) on naturally occurring microbiota and inoculated pathogens (E. coli O157:H7 and L. monocytogenes at ca. 6 log cfu/g) in...

Studies of Lassa Virus Cell Entry.

Host cell entry is the first and most fundamental step of every virus infection and represents a major barrier for zoonotic transmission and viral emergence. Targeting viral entry appears further as a...

Identification of Genetic Disorders Causing Disruption of Selenoprotein Biosynthesis.

Disorders of selenoprotein biosynthesis in humans, due to mutations in three genes (SECISBP2, TRU-TCA1-1, and SEPSECS) involved in the selenocysteine insertion pathway, have been described. Patients w...

Development of a quantitative approach in blood plasma for low-dosed hallucinogens and opioids using LC-high resolution mass spectrometry.

The WHO annually reports an increasing abuse of new psychoactive substances (NPS), which are a heterogeneous group of synthetic drugs and are consumed as substitute for controlled drugs of abuse. In t...

News Articles [1952 Associated News Articles listed on BioPortfolio]

The cAMP responsive element-binding (CREB)-1 gene increases risk of major psychiatric disorders

Video game could help youth with autism improve their balance

Playing a video game that rewards participants for holding various "ninja" poses could help children and youth with autism spectrum disorder (ASD) improve their balance, according to a recent study in...

High-fat diet during lactation alters RNA activity in breast milk, research suggests

New research suggests that following a high-fat diet during lactation-;regardless of diet during pregnancy-;alters RNA activity in breast milk. The changes in genetic material may increase the risk of...

Bioverativ to Present at the Evercore ISI Biopharma Catalyst/Deep Dive Conference

Bioverativ Inc. (NASDAQ: BIVV) announced today that it will present at the Evercore ISI Biopharma Catalyst/Deep Dive Conference. The event will be webcast live on Wednesday...

Novus Therapeutics to Present at the 29th Annual Piper Jaffray Healthcare Conference

IRVINE, California, Nov. 21, 2017 /PRNewswire/ --Novus Therapeutics, Inc. (NASDAQ: NVUS), a development stage specialty pharmaceutical company focused on the development of products for disorders ...

DSS, Jvion Partner to Enhance AI-Driven Health Outcomes for Veterans

Document Storage Systems, Inc. (DSS, Inc.), a provider of health information technology (HIT) solutions for federal, private and public healthcare organizations, today announced a partnership with Jv...

Stepping stones to a new era in gene editing?

After 22 years, gene editing pioneer Sangamo Therapeutics is taking the plunge with three new in vivo gene editing clinical trials

ACADIA Pharmaceuticals to Present at the 29th Annual Piper Jaffray Healthcare Conference on November 28, 2017

ACADIA Pharmaceuticals Inc. (Nasdaq: ACAD), a biopharmaceutical company focused on the development and commercialization of innovative medicines that address unmet medical needs i...

DSS, Inc. Partners with Jvion, Inc. to Improve Health Outcomes for Veterans Through Cutting-Edge Innovation

Partnership Gives the VA the Power of Revolutionary Technology Combined with the Support Needed for Veterans – with Fewer Financial Resources JUNO BEACH, Fla. (PRWEB) November 21, 2017 Document Sto...

Gluco-Chaser Inc Releases a Working Prototype for Proprietary Non-Enzymatic Electrochemical Glucose Sensors Claiming a Multitude of Advantages (www.Gluco-Chaser.com).

Gluco-Chaser Inc (www.Gluco-Chaser.com) releases a working prototype for non-enzymatic electrochemical glucose sensors. Built using proprietary technologies that have been ...

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Companies [471 Associated Companies listed on BioPortfolio]

Helix Opco, LLC

Helix is a personal genomics company with a simple but powerful mission: to empower every person to improve their life through DNA. We’ve created the first store for DNA-powe...

Cycle Pharmaceuticals

Cycle Pharmaceuticals is committed to changing the way that HT-1 is treated and managed around the world. Cycle Pharmaceuticals has worked for more than four years closely with ph...

Neuronax SAS

NEURONAX is a privately-held biopharmaceutical company focusing on the development and discovery of therapeutic approaches to treat central nervous system disorders. Combining an expertise in the dev...

vTv Therapeutics Inc. vTv Therapeutics Inc. vTv Therapeutics Inc.

vTv Therapeutics Inc. is a clinical-stage biopharmaceutical company engaged in the discovery and development of orally administered small molecule drug candidates to fill signific...

Alcresta Therapeutics, Inc.

Alcresta Therapeutics, Inc. is dedicated to developing and commercializing novel enzyme-based products designed to treat gastrointestinal disorders and rare diseases. The company ...

Addiction Policy Forum

The Addiction Policy Forum is a 501(c)3 established in 2015 as a diverse partnership of organizations, policymakers, and stakeholders committed to working together to elevate awar...

Neural Analytics, Inc.

Neural Analytics was founded in 2013 to create products and services to measure, diagnose and track brain health. The company’s current focus is on acute ischemic stroke, TBI...

Raymond Handling Concepts

Raymond Handling Concepts provides high-density storage, order-picking systems and associated services to companies engaged in warehousing and distribution as well as material han...

Cerevance

Cerevance is a recently formed pharmaceutical company focused on central nervous system diseases. The company’s strengths include a powerful technology platform, a pipelin...

iGenomX

Founded in 2012, iGenomX initially sought to provide clinical sequencing for recessive genetic disorders. However, available commercial technology failed to produce a comprehensiv...

Clinical Trials [2450 Associated Clinical Trials listed on BioPortfolio]

Motor Learning in People With Cerebral Palsy by Using Virtual Reality.

Cerebral Palsy (CP) is a group of permanent disorders that affect movement and posture due to a non-progressive lesion in the immature brain occurring in fetal brain development or in infa...

Natural History Study of Patients With X-linked Retinal Dystrophy Associated With Mutations in Retinitis Pigmentosa GTPase Regulator (RPGR)

The rod-cone dystrophies (often referred to as retinitis pigmentosa (RP)) are a clinically and genetically heterogeneous group of disorders in which there is progressive loss of rod and la...

Spatial Neglect and Delirium After Stroke

The goal of this study is to understand what brain mechanisms become disrupted when stroke survivors experience delirium. Delirium is an acute reduction in attention and cognition, associa...

Prevalence, Intensity and Consequences of Bortezomib-induced Neuropathic Disorders.

Cancer-induced peripheral neuropathies (CIPN) remain a real problem in oncology (Balayssac et al., 2011). These CIPN are induced by certain classes of anticancer drugs such as taxanes (pac...

Study of the Reversibility of Vigilance Dysfunction at 6 Months of Continuous Positive Airways Pressure (CPAP) in Patients With Obstructive Sleep Apnea/Hypopnea Syndrome (OSAHS)

It is a monocentric prospective pilot study in Poitiers University Hospital, specifically analyzing the vigilance disorders in the Obstructive Sleep Apnea Hypopnea Syndrome (OSAHS) and the...

Effect of Dietary Intervention on Gut Microbiome in Hong Kong Obese Population

Modern way of life characterized by decreased physical activity and poor dietary habits seems to be an important trigger for the onset of metabolic disorders. Accumulating evidence indicat...

Enhancing Diagnosis in Chronic B-cell Lymphoproliferative Disorders Using Next-Generation Sequencing

To enhance the diagnosis of unclassifiable, non-CLL B-LPDs using next-generation sequencing technology.

Glutamatergic Modulation to Facilitate the Behavioral Treatment of Cocaine Use Disorders

Changes in the communication of glutamate from one brain structure to another are important in the development of therapy for cocaine use disorders. Our preliminary investigations suggest ...

Pre-operative Blood Lipid Level and Post-operative MACE

Whether the pre-operative blood lipid level and post-operative cardiovascular events is associated is unknown. Our study is to find out the main blood lipid and relative protein level chan...

A Problem Solving Based Intervention for Facilitating Return-to-work Among People Suffering From Common Mental Disorders

Problem solving based intervention involving the workplace has shown promising effects on return-to-work among persons with common mental disorders. A key element is cooperation between th...

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Medical and Biotech [MESH] Definitions

Inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates.

An abundant lysosomal-associated membrane protein that has been found to shuttle between LYSOSOMES; ENDOSOMES; and the PLASMA MEMBRANE. Loss of expression of lysosomal-associated membrane protein 2 is associated with GLYCOGEN STORAGE DISEASE TYPE IIB.

A group of enzymatic disorders affecting the nervous system and to a variable degree the skeletal system, lymphoreticular system, and other organs. The conditions are marked by an abnormal accumulation of catabolic material within lysosomes.

A group of autosomal recessive lysosomal storage disorders marked by the accumulation of GANGLIOSIDES. They are caused by impaired enzymes or defective cofactors required for normal ganglioside degradation in the LYSOSOMES. Gangliosidoses are classified by the specific ganglioside accumulated in the defective degradation pathway.

The severe infantile form of inherited lysosomal lipid storage diseases due to deficiency of acid lipase (STEROL ESTERASE). It is characterized by the accumulation of neutral lipids, particularly CHOLESTEROL ESTERS in leukocytes, fibroblasts, and hepatocytes. It is also known as Wolman's xanthomatosis and is an allelic variant of CHOLESTEROL ESTER STORAGE DISEASE.

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