Results 51 to 60 of about 1,294 (181)

Dysregulation of the NLRP3 Inflammasome and Promotion of Disease by IL-1β in a Murine Model of Sandhoff Disease. [PDF]

Cells
Sandhoff disease (SD) is a progressive neurodegenerative lysosomal storage disorder characterized by GM2 ganglioside accumulation as a result of mutations in the HEXB gene, which encodes the β-subunit of the enzyme β-hexosaminidase.
Platt N, Shepherd D, Smith DA, Smith C, Wallom KL, Luqmani R, Churchill GC, Galione A, Platt FM.   +8 more
europepmc   +3 more sources

Integrative genomic and functional analyses reveal NINL as a modulator of tau aggregation

Alzheimer's &Dementia, Volume 22, Issue 4, April 2026.
Abstract INTRODUCTION Proteostasis dysfunction is a hallmark of frontotemporal dementia (FTD) and Alzheimer's disease (AD), yet the genetic and molecular pathways that disrupt protein homeostasis remain poorly understood. METHODS We integrated human genetics, transcriptomics, and functional studies to identify proteostasis network components involved ...
Samantha K. Swift, Guangming Huang, J. Nicholas Cochran, Ricardo D'Oliveira Albanus, Miguel A. Minaya, Patricia A. Castruita, Rui Zhang, Katherine J. Miller, Emma Starr, Grant Galasso, Jacob A. Marsh, Aimee W. Kao, Oscar Harari, Jennifer S. Yokoyama, Celeste M. Karch   +14 more
wiley   +1 more source

Myelin Deficits and Intravenous Gene Therapy in Feline Sandhoff Disease [PDF]

, 2021
Sandhoff Disease (SD) is a neurodegenerative lysosomal storage disease (LSD) that results in the death of children before 4 years of age. Because there are no FDA-approved therapies available, current treatment strategies are limited to palliation. SD is
Maguire, Anne
core  

Zebra-Sphinx: Modeling Sphingolipidoses in Zebrafish [PDF]

, 2023
Sphingolipidoses are inborn errors of metabolism due to the pathogenic mutation of genes that encode for lysosomal enzymes, transporters, or enzyme cofactors that participate in the sphingolipid catabolism.
Capoferri, Davide, Corli, Marzia, Guerra, Jessica, Mignani, Luca, Presta, Marco   +4 more
core   +1 more source

Late Onset Tay-Sachs Disease Presenting as a Brief Psychotic Disorder with Catatonia: A Case Report and Review of the Literature [PDF]

, 2012
This is a case report of late onset Tay-Sachs Disease diagnosed in a 14-year-old male non-Jewish adolescent who presented in a psychotic and catatonic state. The objective is to emphasize that Tay-Sachs disease can present with psychiatric symptoms, with
Saleh, Osama, M.D.
core   +1 more source

An Inducible Mouse Model of Late Onset Tay–Sachs Disease

Neurobiology of Disease, 2002
Mouse models of the GM2 gangliosidoses, Tay–Sachs and Sandhoff disease, are null for the hexosaminidase α and β subunits respectively. The Sandhoff (Hexb−/−) mouse has severe neurological disease and mimics the human infantile onset variant. However, the
Mylvaganam Jeyakumar, David Smith, Elena Eliott-Smith, Mario Cortina-Borja, Gabriele Reinkensmeier, Terry D. Butters, Thorsten Lemm, Konrad Sandhoff, V.Hugh Perry, Raymond A. Dwek, Frances M. Platt   +10 more
doaj   +1 more source

Unraveling Lysosomal Exocytosis: From Molecular Mechanisms to Physiological Functions

Traffic, Volume 27, Issue 1, March 2026.
Lysosomal exocytosis is propelled by specific molecular mechanisms that direct its microtubule‐dependent transport and subsequent fusion with the plasma membrane. This process fulfills essential physiological functions such as plasma membrane repair, maintenance of cellular homeostasis, and participation in signal transduction.
Shanshan Jiang, Jingyi Fu, Shan Li, Zehui Li, Qirui Zhao, Yuqi Yin, Mei Yang, Yonghua Wang   +7 more
wiley   +1 more source

Combined replacement effects of human modified β-hexosaminidase B and GM2 activator protein on GM2 gangliosidoses fibroblasts [PDF]

, 2020
GM2 gangliosidoses are autosomal recessive lysosomal storage diseases (LSDs) caused by mutations in the HEXA, HEXB and GM2A genes, which encode the human lysosomal β-hexosaminidase (Hex) α- and β-subunits, and GM2 activator protein (GM2A), respectively ...
Hirokawa, Takatsugu, Itoh, Kohji, Kitakaze, Keisuke, Sakuraba, Hitoshi, Tajima, Youichi, Tasaki, Chikako, Tsuji, Daisuke   +6 more
core  

Mutation in GM2A Leads to a Progressive Chorea-Dementia Syndrome [PDF]

, 2015
Background: The etiology of many cases of childhood-onset chorea remains undetermined, although advances in genomics are revealing both new disease-associated genes and variant phenotypes associated with known genes.
Bilguvar, Kaya, Bosley, Thomas M., Burn, Sabrina, Crotwell, Patricia L., El Khashab, Heba Y., Hamad, Muddathir H. A., Kruer, Michael C., Landsverk, Megan L., Mane, Shrikant, Myers, Angela, Salih, Mustafa A., Seidahmed, Mohammed Z.   +11 more
core   +5 more sources

Seizures and electroencephalographic findings in inborn errors of metabolism: Clues to differential diagnosis in the neonatal period, infancy, childhood and adolescence, and review of the literature

Epileptic Disorders, Volume 27, Issue 5, Page 745-802, October 2025.
Abstract Although inborn errors of metabolism (IEM) are a rare cause of epilepsy, seizures are a common presentation in these disorders. Seizures in IEM are frequently refractory to conventional anti‐seizure medication and might warrant initiation of specific treatments based on vitamins or dietary modifications or provision of alternative substrates ...
D. Kapoor, S. Sharma, A. Kaminska, R. Nabbout, N. Chemaly, M. Schiff, P. De Lonlay, M. Eisermann   +7 more
wiley   +1 more source