Results 41 to 50 of about 2,679,717 (208)

Clinical Variability and Genotype Driven Outcomes in an International Cohort of 14 Pediatric FIG4 Patients

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Biallelic FIG4 variants classically cause distinct conditions characterized by peripheral neuropathy (Charcot‐Marie‐Tooth disease type 4J) or skeletal dysplasia (Yunis‐Varón syndrome). However, central nervous system involvement is increasingly recognized. The prevalence and specific characteristics of movement disorders within FIG4‐
Andrea Gangfuß, Vykuntaraju K. Gowda, Daniel Natera‐de Benito, Pinki Munot, Maria Vanegas, Alejandra Darling, Constanze Reutlinger, Laura Carrera‐Garcia, Gilbert Wunderlich, Heike Kölbel, Burkhard Stüve, David Muhmann, Lucía Monfort Belenguer, Diana‐Gabriela Barca, Viveka Santhosh Reddy C, Varunvenkat M. Srinivasan, Cristina Molina Anguita, Heinz Jungbluth, Hormos Salimi Dafsari, Thomas Rossor, Johann Böhm, Ulrike Schara‐Schmidt, Andreas Roos   +22 more
wiley   +1 more source

Pfrieger's Digest Niemann-Pick Diseases Issue 9; April 2023-September 2023

, 2023
Summaries of latest research advances related to Niemann-Pick diseases, acid sphingomyelinase deficiency (ASMD) and Niemann-Pick type C disease (NPCD), based on selected peer-reviewed publications in scientific journals.
Pfrieger, Frank
core  

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

The coexistence of two rare diseases thought to use the same pathologic pathway: cystic fibrosis and Niemann-Pick disease

The Turkish Journal of Pediatrics, 2022
Background. Cystic fibrosis (CF) is a multisystemic, autosomal recessive disease, which is caused by a mutation in the transmembrane conduction regulator protein (CFTR) gene.
Aslı İmran Yılmaz, Betül Uğurlu, Gökçen Ünal, Hüseyin Tokgöz, Sevgi Pekcan   +4 more
doaj   +1 more source

Altered gene expression in the liver and small intestine of horses with equine neuroaxonal dystrophy

Equine Veterinary Journal, EarlyView.
Abstract Background Equine neuroaxonal dystrophy/degenerative myeloencephalopathy (eNAD/EDM) is the second most common diagnosis of spinal ataxia in horses in the United States. The disease develops due to a combination of vitamin E deficiency and an unknown genetic risk factor(s), and there currently is no effective treatment.
Stephanie Ryan, Blythe Durbin‐Johnson, Kevin Woolard, Andrew D. Miller, Carrie J. Finno   +4 more
wiley   +1 more source

MicroRNA Profile, Putative Diagnostic Biomarkers and RNA-Based Therapies in the Inherited Lipid Storage Disease Niemann-Pick Type C

Biomedicines, 2023
Lipids are essential for cellular function and are tightly controlled at the transcriptional and post-transcriptional levels. Dysregulation of these pathways is associated with vascular diseases, diabetes, cancer, and several inherited metabolic ...
Marisa Encarnação, Hugo David, Maria Francisca Coutinho, Luciana Moreira, Sandra Alves   +4 more
doaj   +1 more source

Climate Justice in Sub‐Saharan Africa: Unequal Burdens and Pathways to Socially Just Adaptation

Sustainable Development, EarlyView.
ABSTRACT Climate change in Sub‐Saharan Africa is often framed through vulnerability, resilience, and adaptation, yet these concepts alone do not fully explain the unequal social, economic, and political conditions shaping climate harm. This review examines climate change through a climate justice lens, focusing on unequal burdens, household welfare ...
Jacob Kwakye, Abraham Kwao
wiley   +1 more source

Chemical Proteomic Analysis of Serine Hydrolase Activity in Niemann-Pick Type C Mouse Brain

Frontiers in Neuroscience, 2018
The endocannabinoid system (ECS) is considered to be an endogenous protective system in various neurodegenerative diseases. Niemann-Pick type C (NPC) is a neurodegenerative disease in which the role of the ECS has not been studied yet.
Eva J. van Rooden, Annelot C. M. van Esbroeck, Marc P. Baggelaar, Hui Deng, Bogdan I. Florea, André R. A. Marques, Roelof Ottenhoff, Rolf G. Boot, Herman S. Overkleeft, Johannes M. F. G. Aerts, Mario van der Stelt   +10 more
doaj   +1 more source

Yeast Knockout Strain Collection: Driving Functional Genomics, Biotechnological Applications and Human Disease Research

Yeast, EarlyView.
ABSTRACT The knockout strain collection of Saccharomyces cerevisiae has served as a valuable resource for functional genomics and yeast‐based biotechnology studies. A comprehensive single‐gene knockout strain collection, covering nearly all non‐essential genes, together with complementary mutant collections for essential genes, including temperature ...
Takashi Hirasawa
wiley   +1 more source

Pfrieger's Digest Niemann-Pick Diseases Issue 8; October 2022-March 2023

, 2023
Summaries of latest research advances related to Niemann-Pick diseases, acid sphingomyelinase deficiency (ASMD) and Niemann-Pick type C disease (NPCD), based on selected peer-reviewed publications in scientific journals.
Fw, Pfrieger
core