Results 61 to 70 of about 70,919 (240)

Protein hydrolysates in cell culture: Toward multi‐omics characterization

Biotechnology Progress, EarlyView.
While protein hydrolysates are widely used in cell culture applications, they remain undefined and variable products. Multi‐omic characterization evaluating composition and function can transition hydrolysates toward semi‐defined media components.
Michelle Combe, Brandon M. Wrage, Angel Varela‐Rohena, Stanislav Sokolenko   +3 more
wiley   +1 more source

Hypoxia-Associated Remodeling of the Arginine–Citrulline–Ornithine Axis in Parkinson’s Disease and Restless Legs Syndrome: A Targeted LC–MS/MS and HIF-1α Profiling Study

Medicina
Background and Objectives: Hypoxia-inducible factor-1 alpha (HIF-1α) is a central regulator of cellular responses to hypoxia and has been implicated in the pathophysiology of several neurological disorders.
Seyma Dumur, Mohammad Mahdi Bagheri Asl, Demet Aygun, Hafize Boyaci, Dildar Konukoglu, Hafize Uzun   +5 more
doaj   +1 more source

Hepatic encephalopathy syndrome: current aspects of diagnosis and treatment

Медицинский совет, 2016
Chronic liver diseases (CKD) are located on one of the first places on the incidence and are currently the fifth most common cause of mortality in many developed countries. One of the manifestations caused by hepatic insufficiency, hepatic encephalopathy
D. I. Trukhan
doaj   +1 more source

Visualizing Specific Tubulin Isotypes and Pathogenic Variants in Cellular Microtubule Arrays

Cytoskeleton, EarlyView.
ABSTRACT Eukaryotic cells depend on dynamic microtubule arrays to execute a wide range of functions vital for life. These microtubule filaments are formed through the polymerization of α/β‐tubulin proteins, which can be generated from numerous tubulin genes, or isotypes.
Sareen Fiaz, Benjamin Powers, Jayne Aiken   +2 more
wiley   +1 more source

First National Expanded Genomic Newborn Screening Program in Qatar; A Pilot Study, Doha‐Heidelberg Collaboration

American Journal of Medical Genetics Part A, EarlyView.
Reem Alsulaiman, Sarah Okashah, Radja Messai Badji, Fatemeh Abbaszadeh, Yaser Alsarraj, Rehab Ali Abdulrahman, Noora Shahbeck, Thalib Moideen, Reema El Hassan, Fatima Al‐Hamaydeh, Einas Alkuwari, Said Ismail, Hilal Al‐ Rifai, Ghassan Abdoh, Christian P. Schaaf, Georg Hoffmann, Saad Al‐Kaabi, Wadha Al‐Muftah, Tawfeg Ben‐Omran   +18 more
wiley   +1 more source

Epilepsy‐associated SCN2A‐L1342P mutation drives network hyperexcitability and widespread transcriptomic changes in human cortical organoids

Epilepsia, EarlyView.
Abstract Objective SCN2A pathogenic mutations, such as the recurrent heterozygous Nav1.2‐L1342P, are monogenic causes of epilepsy. In this human‐induced pluripotent stem cell–derived model system, we aim to investigate the molecular and cellular mechanisms underlying SCN2A‐L1342P‐associated pathology. Methods Using a human male induced pluripotent stem
Maria I. Olivero‐Acosta, Morgan Robinson, Zhefu Que, Zaiyang Zhang, Karen V. Salazar‐Salazar, Hope Elizabeth Harlow, Vinayak Shankar, Seoyeon Hong, Muhan Wang, Conrad M. Otterbacher, Hina Kadono, Manasi Halurkar, Harish Kothandaraman, Nadia Atallah Lanman, Trang Nguyen, Kyle Wettschurack, Benjamin Zirkle, Layan Yunis, Ningren Cui, Xiaoling Chen, Jingliang Zhang, Jiaxiang Wu, William C. Skarnes, Chongli Yuan, Feng Guo, Megan Abbott, Yang Yang   +26 more
wiley   +1 more source

Arginase Activity, Ornithine and Urea Levels in Breast Cyst Fluid [PDF]

Türk Biyokimya Dergisi, 2006
Gross cystic disease of breast is the commonest benign disease of breast effecting1:20 women in the western world. There are two groups of breast cyst; lined eitherby metaplastic epithelium (Na/K3).
Hakan Erbaş,, Oya Erten,, Mehmet E. İrfanoğlu, Aynur Dağlar   +3 more
doaj  

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Treatment and Improved Outcomes of Three Adult Patients With Guanidinoacetate Methyltransferase (GAMT) Deficiency

JIMD Reports
Guanidinoacetate methyltransferase (GAMT) deficiency is a creatine synthesis disorder caused by biallelic pathogenic variants in GAMT. Early diagnosis and treatment can lead to normal neurocognitive outcomes, which has prompted its recent addition to the
Angela Lee, Judith Weisenberg, Elizabeth Toolan, Marwan Shinawi   +3 more
doaj   +1 more source

Ornithine Transaminase [PDF]

Nature, 1951
J H, QUASTEL, R, WITTY
openaire   +2 more sources