Results 251 to 260 of about 56,286 (316)

Assessment of the reliability, responsiveness, and meaningfulness of the scale for the assessment and rating of ataxia (SARA) for lysosomal storage disorders. [PDF]

J Neurol
Park J, Bremova-Ertl T, Brands M, Foltan T, Gautschi M, Gissen P, Hahn A, Jones S, Arash-Kaps L, Kolnikova M, Patterson M, Perlman S, Ramaswami U, Reichmannová S, Rohrbach M, Schneider SA, Shaikh A, Sivananthan S, Synofzik M, Walterfarng M, Wibawa P, Martakis K, Manto M.   +22 more
europepmc   +1 more source

Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study [PDF]

, 2016
et al,, Pestronk, Alan
core   +1 more source

Nature Inspired Delivery Vehicles for CRISPR‐Based Genome Editing

Small, EarlyView.
The review highlights nature‐inspired nanocarriers for CRISPR delivery, emphasizing viral vectors, extracellular vesicles, liposomes, and lipid nanoparticles. It discusses their roles in improving specificity, minimizing immunogenicity, and overcoming barriers in genome editing. Recent advancements, challenges, and therapeutic applications are explored,
Elizabeth Maria Clarissa, Mamata Karmacharya, Hyunmin Choi, Sumit Kumar, Yoon‐Kyoung Cho   +4 more
wiley   +1 more source

Novel pathomechanistic insights into lysosomal storage disorders: how neuron-intrinsic cGAS-STING signaling drives disease progression. [PDF]

Signal Transduct Target Ther
Frosch M, Prinz M.
europepmc   +1 more source

Organelle Sorting and Proteomic Analysis to Identify Proteins Involved in the Uptake and Intracellular Trafficking of Nanoparticles

Small Methods, EarlyView.
A new method to identify proteins involved in the uptake and intracellular trafficking of nanoparticles is presented. After nanoparticle uptake, cells are lysed and the organelles with nanoparticles are purified using fluorescence assisted cell sorting. Next, their composition is determined by proteomic analysis.
Hector Garcia Romeu, Anna Salvati
wiley   +1 more source

Different diseases, different needs: Patient preferences for gene therapy in lysosomal storage disorders, a probabilistic threshold technique survey. [PDF]

Orphanet J Rare Dis
Corazolla EM, Eskes ECB, Veldwijk J, Brands MMMG, Dekker H, van de Mheen E, Langeveld M, Hollak CEM, Sjouke B.   +8 more
europepmc   +1 more source

Genetic Pigmentary Disorders: From Molecular Mechanisms to Clinical Manifestations

The Journal of Dermatology, EarlyView.
ABSTRACT Genetic pigmentary disorders represent a diverse group of genetic conditions characterized by alterations in melanin production and transport and melanocyte development, resulting from single‐gene pathological variants. These disorders encompass both hypopigmentary and hyperpigmentary phenotypes, affecting not only skin pigmentation but also ...
Ken Okamura, Tamio Suzuki
wiley   +1 more source

Bleeding Disorders in Children With Genetic Diseases: A Narrative Review

Acta Paediatrica, EarlyView.
ABSTRACT Aim The lack of data on bleeding risk assessment in children with genetic diseases is concerning given their increased care needs and risk of haemorrhagic complications compared to the general population. Identification of haemostatic disorders is crucial for implementing preventive measures and mitigating bleeding risk.
Raphaelle Cagol, Mariam Sbeity Barakat, Marjolaine Willems, Tasnime Akbaraly, Biron‐Andreani Christine, Isabelle Diaz, Alexandre Theron   +6 more
wiley   +1 more source

Songorine inhibits mitophagy in chronic heart failure via the TBC1D15/Fis1/Rab7A pathway

British Journal of Pharmacology, EarlyView.
Abstract Background and purpose Songorine (SGR) is an alkaloid extracted from Aconitum carichaelii Debx. and has a demonstrated role in cardiac dysfunction. Chronic heart failure (CHF) is a severe clinical syndrome leading to functional impairment and death, primarily due to the deterioration of energy metabolism in cardiomyocytes. However, the precise
Wenxiu Liu, Xingju Zou, Yang Zheng, Chen Sun, Cheng Peng   +4 more
wiley   +1 more source