Results 61 to 70 of about 7,809 (216)
Autophagy in Lysosomal Storage Disorders [PDF]
, 2012 Lysosomes are ubiquitous intracellular organelles that have an acidic internal pH, and play crucial roles in cellular clearance. Numerous functions depend on normal lysosomes, including the turnover of cellular constituents, cholesterol homeostasis ...
Ballabio, Andrea +5 more
core +1 more source
Transgenic animals - review paper [PDF]
, 2006 Developments in the biological sciences in the last years have changed mankind's ability to manipulate the genetics, cell biology and physiology of biological organisms. These techniques, collectively termed biotechnology, create the opportunity for
Blundell, Renald
core
Brain Pathology, Volume 36, Issue 1, January 2026.Sphingolipids are vital components of cell membranes. Metabolic disruptions of sphingolipids, including ceramide and sphingosine‐1‐phosphate, are linked to neurological disorders. This article summarizes the classification, structure, and metabolic processes of sphingolipids, and the physiological and pathological effects of sphingolipid metabolism and
Tian Li +7 more
wiley +1 more source
Lysosomal storage diseases in Portugal: 10 years of experience in molecular studies at National Health Institute (2006-2016) [PDF]
, 2016 As Doenças Lisososomais de Sobrecarga (DLS) são um grupo de mais de 50 doenças hereditárias do metabolismo, sendo a maioria causada por defeitos em enzimas lisossomais específicas.
Alves, Sandra +5 more
core
Deficiency of the frontotemporal dementia gene GRN results in gangliosidosis
Nature Communications, 2022 Progranulin-deficieny results in gangliosidosis due to reduced lysosomal lipids (BMP) required for ganglioside degradation. Lysosomal ganglioside accumulation may contribute to neuroinflammation and neurodegeneration susceptibility observed in FTD.
Sebastian Boland +18 more
doaj +1 more source
World Journal of Otorhinolaryngology - Head and Neck Surgery, Volume 11, Issue 4, Page 548-567, December 2025.ABSTRACT Spasmodic dysphonia is a laryngeal dystonia that can present as adductor, abductor, or mixed types, with or without tremor. The etiology is not understood fully. Comprehensive evaluation is required to establish the diagnosis. Treatments include voice therapy, medications, botulinum toxin injection, laryngeal surgery, deep brain stimulation ...
Aaron J. Jaworek, Robert T. Sataloff
wiley +1 more source
Gene and RNA Editing: Revolutionary Approaches to Treating Diseases
MedComm, Volume 6, Issue 10, October 2025.The image illustrates gene editing technologies: DNA editing using CRISPR–Cas9 and RNA editing via Cas13d, with their clinical applications and ethical risks. DNA editing allows precise gene modifications for conditions like amyotrophic lateral sclerosis [ALS] and Huntington's disease, while RNA editing supports multiplexed modifications.
Jia‐Mei Li +6 more
wiley +1 more source
Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies
Annals of Neurology, Volume 98, Issue 3, Page 448-470, September 2025.[Color figure can be viewed at www.annalsofneurology.org] Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical ...
Brent L. Fogel +10 more
wiley +1 more source
Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene
BMC Medical Genetics, 2017 Background Type II or juvenile GM1-gangliosidosis is an autosomal recessive lysosomal storage disorder, which is clinically distinct from infantile form of the disease by the lack of characteristic cherry-red spot and hepatosplenomegaly.
Parvaneh Karimzadeh +8 more
doaj +1 more source
Alzheimer's &Dementia, Volume 21, Issue 7, July 2025.Abstract INTRODUCTION Cognitive impairment is common but often overlooked due to motor symptoms in progressive supranuclear palsy‐Richardson syndrome (PSP‐RS). This study investigates whether cognitive deficits predict disease progression in PSP‐RS. METHODS A total of 146 PSP‐RS from the Tilavonemab trial were evaluated at baseline and over 52 weeks ...
Indira Garcia‐Cordero +20 more
wiley +1 more source