Advertisement

Topics

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

23:15 EST 19th February 2018 | 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 [7133 Associated PubMed Articles listed on BioPortfolio]

Evaluation of Stability of Thiopurine Metabolites Using a Validated LC-MS/MS Method.

Measurement of thiopurine metabolites is helpful to monitor adverse effects and assess compliance in patients on thiopurine treatment. The purpose of this study was to develop and validate an analytic...

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 ...

Region-Based Prediction for Image Compression in the Cloud.

Thanks to the increasing number of images stored in the cloud, external image similarities can be leveraged to efficiently compress images by exploiting inter-images correlations. In this paper, we pr...

Of mice and mental health: facilitating dialogue and seeing further.

The science of mental life is critical for understanding both how we function, and impairments in our functioning. However, understanding the causal mechanisms underlying mental health disorders and d...

Neuropharmacology of compulsive eating.

Compulsive eating behaviour is a transdiagnostic construct observed in certain forms of obesity and eating disorders, as well as in the proposed construct of 'food addiction'. Compulsive eating can be...

Can we use mice to study schizophrenia?

The validity of rodent models for the study of psychiatric disorders is controversial. Despite great efforts from academic institutions and pharmaceutical companies, as of today, no major therapeutic ...

The daunting polygenicity of mental illness: making a new map.

An epochal opportunity to elucidate the pathogenic mechanisms of psychiatric disorders has emerged from advances in genomic technology, new computational tools and the growth of international consorti...

The surprising subtleties of changing fear memory: a challenge for translational science.

Current pharmacological and psychological treatments for disorders of emotional memory only dampen the affective response while leaving the original fear memory intact. Under adverse circumstances, th...

Translational new approaches for investigating mood disorders in rodents and what they may reveal about the underlying neurobiology of major depressive disorder.

Mood disorders represent one of society's most costly and challenging health burdens. The drug treatments used today were initially discovered serendipitously in the 1950s. Animal models were then dev...

News Articles [1869 Associated News Articles listed on BioPortfolio]

HEMCO UniFlow SE AireStream fume hood

UniFlow SE AireStream Fume Hoods are constructed entirely of chemical-resistant, flame-retardant, non-metallic composite resin materials. The high-performance fume hood is said to maximise user protec...

Global and North America Machine Stretch Film Market Status and Future Forecast 20132023 [Report Updated: 08022018] Prices from USD $2500

SummaryKey Content of Chapters Including and can be customizedPart 1:Market Overview, Development, and Segment by Type, Application RegionPart 2:Global Market by company, Type, Application RegionPar...

U-Haul Repurposing Former Kmart for Self-Storage in Sioux City

Adaptive reuse of the property will render approximately 900 indoor self-storage units, including climate-controlled rooms, with high-tech security features at affordable price points. Propane and ...

Persistent Glucose Disorders After Control of Acromegaly

Patients with acromegaly may be at continued risk for glucose disorders -- even after hypersecretion of growth hormone has been controlled. Journal of the Endocrine Society

New algorithm can pinpoint mutations favored by natural selection in large sections of the human genome

A team of scientists has developed an algorithm that can accurately pinpoint, in large regions of the human genome, mutations favored by natural selection. The finding provides deeper insight into how...

Global Genetic Disorders Drugs Market 2017-2023: Genetic Disorders Clinical Trials have an ...

Global revenue from the genetic disorders market is forecast to increase from $19.6 billionin 2016 to $47.7 billionin 2023, at a compound annual Read more...

Ketogenic Drinks Improve Glycemia and Insulin Sensitivity

A small trial in healthy volunteers hints at a possible role for 'keto drinks' in metabolic disorders. Medscape Medical News

Tanks and atmospheric vessels

The product specifications Bachiller can accommodate for storage vessels for liquids

Alfen to Supply Energy Storage System to Belgian Grid Operator Eandis to Prepare for the Future

Alfen, specialist in energy solutions for the future, announces the start of a smart energy storage system for Eandis'logistical center in Lokeren, Belgium Read more...

Global and North America Lithiumion Battery Anode Materials Market Status and Future Forecast 20132023 [Report Updated: 07022018] Prices from USD $2500

SummaryKey Content of Chapters Including and can be customizedPart 1:Market Overview, Development, and Segment by Type, Application RegionPart 2:Global Market by company, Type, Application RegionPar...

Events [0 Results]

None

Companies [477 Associated Companies listed on BioPortfolio]

Brooks Life Sciences

Brooks Life Sciences, a division of Brooks Automation, is the leading worldwide provider of innovative and comprehensive sample lifecycle management solutions for the bioscience i...

Cortexyme, Inc.

Based in South San Francisco, California, Cortexyme is a privately held, clinical-stage pharmaceutical company developing therapeutics to alter the course of Alzheimer’s and ...

Bioverativ Inc. & Sobi

Bioverativ (NASDAQ: BIVV) is a global biopharmaceutical company dedicated to transforming the lives of people with hemophilia and other rare blood disorders through world-class re...

Bioverativ Inc. and Sobi

Bioverativ (NASDAQ: BIVV) is a global biopharmaceutical company dedicated to transforming the lives of people with hemophilia and other rare blood disorders through world-class re...

Sunspire Health

Sunspire Health is a nationwide network of accessible and affordable community-based addiction treatment facilities that offer personalized treatment plans for people of all walks...

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 ...

Clinical Trials [2557 Associated Clinical Trials listed on BioPortfolio]

Comparison of Two Different Virtual Reality Methods in Patients With Multiple Sclerosis

As a chronic, autoimmune, inflammatory disease of the central nervous system, Multiple Sclerosis (MS) is a neurologic problem which the most frequent cause of disability in young adults. F...

Emotional Perceptual Training as a Treatment for Social Anxiety: Behavioral and Neural Evidence.

The Perceptual Training Study is a series of studies performed with the purpose of identifying a potential avenue for treatment of mood disorders, particularly anxiety-based mood disorders...

Screening and Characterization of Hearing Disorders in Diabetic Persons.

Diabetes is now the most common chronic disease, affecting nearly 6% of the population in Western populations. Diabetic neuropathy is a priori the most common and the most common specific ...

A Study to Investigate the Safety and Immunogenicity of Different Formulations of GSK Biologicals' Meningococcal ACWY Conjugate Vaccine (GSK3536820A and Menveo) Administered to Healthy Adolescents and Young Adults 10 to 40 Years of Age

MenACWY (Menveo) is a GSK vaccine intended for protection against disease caused by meningococcal bacteria groups A, C, W and Y in infants, children and adults, licensed in more than 60 co...

Greater Occipital and Supraorbital Nerve Blockade in Migraine Patients

The investigators aimed to evaluate the efficacy of greater occipital nerve and supraorbital nerve blockade with local anesthetics for the preventive treatment of migraine without aura.

Biospecimen Procurement for NIDCD Clinical Protocols

Background: Researchers want to learn more about head and neck disorders. Understanding these disorders could help them find better treatments. To do this, they are collecting tissue samp...

A Pilot Study of Buspirone for the Treatment of Anxiety in Youth With Autism Spectrum Disorders

The main objective of this exploratory 8-week pilot study is to evaluate the safety and efficacy of buspirone for the treatment of anxiety in youth (ages 6-17 years) with autism spectrum d...

Nuclear Myosin VI - a Therapeutic Target in Breast Cancer

Gene expression, the transfer of the genetic code into cellular proteins is one of the most fundamental processes in living cells. This process is orchestrated by protein-based molecular m...

Affective Management Training for Cannabis Misuse

Emerging evidence suggests that it is not the negative affect per se but underlying maladaptive cognitive, behavioral, and emotional responses to it that put an individual at risk of patho...

Melatonin Receptor Agonist and Peripheral Biological Markers

People who have insomnia typically co-occur with mental disorders, especially anxiety and depression. It has been documented that the melatonin phase in the depressed patients was reached ...

Videos

None available.

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.

Advertisement
Quick Search
Advertisement
Advertisement

 

Relevant Topics

Nutrition
Within medicine, nutrition (the study of food and the effect of its components on the body) has many different roles. Appropriate nutrition can help prevent certain diseases, or treat others. In critically ill patients, artificial feeding by tubes need t...

Enzymes
Enzymes are proteins that catalyze (i.e., increase the rates of) chemical reactions. In enzymatic reactions, the molecules at the beginning of the process, called substrates, are converted into different molecules, called products. Almost all chemical re...

review and buy Lysosomal storage disorders (LSDs) market research data and corporate reports here

Channels Quicklinks