Results 61 to 70 of about 1,666 (186)
From amaurotic idiocy to biochemically defined lipid storage diseases: the first identification of GM1-Gangliosidosis [PDF]
, 2023 On February 23rd 1936, a boy-child (“Kn”) died in an asylum near Munich after years of severe congenital dis-ease, which had profoundly impaired his development leading to inability to walk, talk and see as well as to severe epilepsy.
Albers, Anne +4 more
core +2 more sources
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 +7 more
wiley +1 more source
Lysosomal Diseases and Neuropsychiatry: Opportunities to Rebalance the Mind
Frontiers in Molecular Biosciences, 2020 The brain is the physical organ of the mind but efforts to understand mental illness within a neurobiological context have hitherto been unavailing. Mental disorders (anxiety, depression, bipolar disorder, and schizophrenia) affect about one fifth of the
Timothy M. Cox
doaj +1 more source
What is a premature death? [PDF]
, 2007 The one who dies is deprived of goods that this person would have enjoyed if he or she had continued living, according to the popular “deprivation account of harm.” The person who dies “prematurely” is generally thought to suffer the most harm from death.
Trisel, Brooke Alan
core
Temporal gene expression profiling reveals CEBPD as a candidate regulator of brain disease in prosaposin deficient mice [PDF]
, 2008 Background Prosaposin encodes, in tandem, four small acidic activator proteins (saposins) with specificities for glycosphingolipid (GSL) hydrolases in lysosomes.
Ying Sun +9 more
core +1 more source
From Molecule to Meaning: Neuronopathic Biomarkers and Clinical Relevance in GM1
Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.ABSTRACT GM1 gangliosidosis is a rare, progressively neurodegenerative lysosomal storage disorder characterized by profound central nervous system involvement and substantial clinical heterogeneity. The development of reliable biomarkers is essential for tracking disease progression, stratifying patients, and advancing clinical trial readiness. Primary
Krista Casazza +3 more
wiley +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
ChemBioChem, Volume 26, Issue 23, November 27, 2025.An N‐galactosyl aziridine is found to have μM range mixed inhibition constants (K i and K i’) for a fungal β‐galactosidase. Aziridine‐bearing cyclic polyols are established as irreversible covalent inhibitors of glycosyl hydrolases and have been employed as activity‐based probes.
Aaron McCormack +3 more
wiley +1 more source
Population Screening for Genetic Disease [PDF]
, 1977 Recent advances in genetics and laboratory techniques have raised difficult issues for both the medical and lay communities. The desirability of initiating population screening programs is an example of one such issue that has engendered considerable ...
Mamunes, Peter
core +1 more source
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 +7 more
wiley +1 more source