Results 91 to 100 of about 4,732,768 (313)

Current Status of Drug Development and Implementation for Diseases Included in the Second Catalog of Rare Diseases

, 2023
The National Health Commission of the People′s Republic of China and six other departments jointly released the Second Catalog of Rare Diseases, which expanded the definition of rare diseases in China. The expansion of the catalog means greater attention
LI Linkang, YANG Yuqi, LI Kexin, ZHAO Kun, ZHENG Jiayin   +4 more
core   +1 more source

Translophagy—A potential link between autophagy impairment and translational errors

FEBS Letters, EarlyView.
Neurodegenerative diseases are characterised by the accumulation of abnormal proteins and protein aggregates, but their origin often remains unknown. We propose that selective autophagy removes damaged protein‐making machinery, preventing errors during protein synthesis.
Mykola V. Korolchuk, Gailing Ma, Robin Antrobus, Diego Manni, Marco Trevisan‐Herraz, Mustafa Khwaja, Max Brown, Gavin D. Richardson, Masaaki Komatsu, Daniel Erskine, Viktor I. Korolchuk, Tetsushi Kataura   +11 more
wiley   +1 more source

The Italian National Rare Diseases Registry. [PDF]

, 2014
INTRODUCTION:Rare disease registries are a priority at European level and specific actions are being implemented by the European Commission to support their development.In Italy, a National Registry of rare diseases has been established in 2001 as a ...
Vittozzi, Luciano, Bianchi, Fabrizio, Nationale Rare Diseases, Registries Collaborating Group, Taruscio, Domenica, Kodra, Yllka, Ferrari, Gianluca   +5 more
core  

Multi-criteria decision analysis for assessment and appraisal of orphan drugs

Frontiers in Public Health, 2016
Background: Limited resources and expanding expectations push all countries and types of health systems to adopt new approaches in priority setting and resources allocation.
Georgi Iskrov, Georgi Iskrov, Tsonka Miteva-Katrandzhieva, Tsonka Miteva-Katrandzhieva, Rumen Stefanov, Rumen Stefanov   +5 more
doaj   +1 more source

The heterodimeric amino acid transporters (HAT) of the SLC7/SLC3 family: A structure−function relationships and relevance to human pathology

FEBS Letters, EarlyView.
Heterodimeric amino acid transporters consist of SLC7 and SLC3 family proteins arranged in a conserved structural organization. They regulate nutrient transport across cell membranes, supporting essential cellular functions. These transporters also contribute to xenobiotic/drug uptake and distribution.
Mariafrancesca Scalise, Tiziano Mazza, Raffaella Scanga, Lara Console, Michele Galluccio, Cesare Indiveri   +5 more
wiley   +1 more source

Haploidentical Hematopoietic Cell Transplantation for Infants With X‐Linked Severe Combined Immunodeficiency Using Post‐Transplant Cyclophosphamide

Pediatric Blood &Cancer, EarlyView.
Shuhei Takahashi, Akito Kawachi, Dan Tomomasa, Eri Watanabe, Yuji Fujita, Yuya Sato, Masahiro Sekiguchi, Kentaro Watanabe, Moe Hidaka, Akihiro Hoshino, Takahiro Kamiya, Masatoshi Takagi, Hirokazu Kanegane, Motohiro Kato   +13 more
wiley   +1 more source

Metastatic niche shaped by host factors influences disseminated cancer cell fate

FEBS Letters, EarlyView.
Metastasis is shaped not only by cancer cells but also by the environments they encounter. This review explores how factors such as aging, diet, the microbiome, lifestyle, and environmental exposures remodel organ‐specific niches in the lung, liver, bone, and brain, influencing where metastatic cells survive, remain dormant, or grow, and ultimately ...
Gwennan Delyth Ward, Álvaro Ruiz‐Tabas, Patricia Altea‐Manzano   +2 more
wiley   +1 more source

Smaller is better: nanobodies meet NMR

FEBS Letters, EarlyView.
Nanobodies are single‐domain antigen‐binding fragments derived from camelid heavy chain antibodies. Their small size, high stability, and exceptional specificity make nanobodies uniquely useful probes for NMR studies of protein dynamics, transient conformational states, and protein–protein interactions.
Oleg Y. Dmitriev
wiley   +1 more source

Invisible but not inaccessible—Revealing transient oligomers formed by intrinsically disordered proteins with solution NMR and complementary methods

FEBS Letters, EarlyView.
Transient oligomers formed by intrinsically disordered proteins may be ‘invisible’ to direct detection yet remain accessible to solution NMR through equilibrium‐exchange measurements and pressure‐jump experiments. Complementary methods report on mass, stoichiometry, selected distance distributions, morphology, and internal packing.
Martin D. Gelenter, Ad Bax
wiley   +1 more source

Study on Drug List and Accessibility of Rare Diseases Based on the China′s Second List of Rare Diseases

Objective This study aims to sort out the rare disease drugs in the China′s Second List of Rare Diseases, to provide reference for the management of rare disease drug treatment.
ZHANG Bo, LIU Qingyang, ZHANG Shuyang, WANG Shaohong, ZUO Wei, LIU Xin   +5 more
core   +1 more source