Results 131 to 140 of about 42,118 (292)

Genome-wide screening of mouse knockouts reveals novel genes required for normal integumentary and oculocutaneous structure and function. [PDF]

, 2019
Oculocutaneous syndromes are often due to mutations in single genes. In some cases, mouse models for these diseases exist in spontaneously occurring mutations, or in mice resulting from forward mutatagenesis screens.
Adissu, Hibret, Berberovic, Zorana, Clary, Dave, Eskandarian, Mohammad, Flenniken, Ann M, International Mouse Phenotyping Consortium, Lloyd, KC Kent, McKerlie, Colin, Moore, Bret A, Moshiri, Ala, Moshiri, Ata S, Murphy, Christopher J, Newbigging, Susan, Nutter, Lauryl MJ, Owen, Celeste, Thomasy, Sara M   +15 more
core  

Unveiling a New Link: Cholesterol Deficiency in Smith–Lemli–Opitz and Niemann–Pick C as a Driver of Ciliopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The ciliopathies are a group of genetic disorders caused by defective function of either the primary cilia (a large number) or the motile cilia (a much smaller number). These have been defined as diseases with mutations in genes encoding individual ciliary or cilia‐associated proteins.
Robert P. Erickson, Maria Teresa Fiorenza   +1 more
wiley   +1 more source

MAN2B1 in immune system-related diseases, neurodegenerative disorders and cancers: functions beyond α-mannosidosis

Expert Reviews in Molecular Medicine
Glycosylation modifications of proteins and glycan hydrolysis are critical for protein function in biological processes. Aberrations in glycosylation enzymes are linked to lysosomal storage disorders (LSDs), immune interactions, congenital disorders and ...
Yuwen Han, Yuanshuai Zhou, Jinlin Pan, Minxuan Sun, Jiao Yang   +4 more
doaj   +1 more source

Construction of pathogenic Sec16a mutation mouse model using CRISPR/Cas9

Animal Models and Experimental Medicine, EarlyView.
Yaqiang Hu et al. engineered a pathogenic Sec16a mutant mouse model using CRISPR/Cas9 technology. They observed that the Sec16a mutant mice displayed diminished learning and memory capabilities, along with a limb‐clasping phenotype upon tail suspension.
Yaqiang Hu, Zhiyang Zeng, Xinyu Ming, Shuming Yin, Yuting Guan, Liangcai Gao, Dali Li   +6 more
wiley   +1 more source

Seven-year follow-up of durability and safety of AAV CNS gene therapy for a lysosomal storage disorder in a large animal. [PDF]

Mol Ther Methods Clin Dev, 2021
Marcó S, Haurigot V, Jaén ML, Ribera A, Sánchez V, Molas M, Garcia M, León X, Roca C, Sánchez X, Bertolin J, Pérez J, Elias G, Navarro M, Carretero A, Pumarola M, Andaluz A, Espada Y, Añor S, Bosch F.   +19 more
europepmc   +1 more source

Interaction between galectin-3 and cystinosin uncovers a pathogenic role of inflammation in kidney involvement of cystinosis. [PDF]

, 2019
Inflammation is involved in the pathogenesis of many disorders. However, the underlying mechanisms are often unknown. Here, we test whether cystinosin, the protein involved in cystinosis, is a critical regulator of galectin-3, a member of the β ...
Antignac, Corinne, Bailleux, Anne, Catz, Sergio D, Cherqui, Stephanie, Cheung, Wai W, Gubler, Marie-Claire, Guerrera, Ida Chiara, Lobry, Tatiana, Mak, Robert H, Miller, Roy, Montier, Tristan, Moore, Fiona, Nevo, Nathalie, Pouly, Daniel, Rocca, Celine J, Thomas, Lucie, Zhang, Jinzhong   +16 more
core  

Lysosomal storage disorders.

Indian pediatrics, 2004
This study was conducted to assess the variability of clinical expression of Lysosomal storage disorders (LSDs) and the selection of specific enzyme investigation to reach the differential diagnosis. Initially 150 children in the age range of 15 days to 13 years were screened for common metabolic disorder and based on screening results, clinical signs ...
Jayesh, Sheth, Pinaki, Patel, Frenny, Sheth, Raju, Shah   +3 more
openaire   +1 more source

Predominance of Ferroptotic Cell Death Mechanisms in Substantia Nigra Neurodegeneration in Parkinson's Disease

Annals of Neurology, EarlyView.
Objective The extent of neuronal loss in Parkinson's disease (PD) and the pathogenic processes underlying neuronal dysfunction and loss remain poorly understood. Here, we analyzed the expression of key molecules representing different cell death signaling pathways and their association with Lewy pathology, dopaminergic (DA) neuron loss and stage of PD ...
Yue Jing Heng, Anusha Jayaraman, Richard Reynolds, Jia Nee Foo   +3 more
wiley   +1 more source

Changes in glycosphingolipid levels in plasma and cerebrospinal fluid of individuals with Lysosomal Free Sialic Acid Storage Disorder

Rare
Lysosomal free sialic acid storage disorder (FSASD) is a rare, multisystem disease caused by biallelic pathogenic variants in SLC17A5, encoding the lysosomal transmembrane sialic acid exporter, sialin.
Marya S. Sabir, Lynne Wolfe, David R. Adams, Carla Ciccone, Forbes D. Porter, William A. Gahl, Marjan Huizing, Frances M. Platt, May Christine V. Malicdan   +8 more
doaj   +1 more source

Reactivation of mTOR signaling slows neurodegeneration in a lysosomal sphingolipid storage disease

Neurobiology of Disease
Sandhoff disease, a lysosomal storage disorder, is caused by pathogenic variants in the HEXB gene, resulting in the loss of β-hexosaminidase activity and accumulation of sphingolipids including GM2 ganglioside.
Hongling Zhu, Y. Terry Lee, Colleen Byrnes, Jabili Angina, Danielle A. Springer, Galina Tuymetova, Mari Kono, Cynthia J. Tifft, Richard L. Proia   +8 more
doaj   +1 more source