Results 81 to 90 of about 9,571 (221)

Accumulation of glial fibrillary acidic protein and histone H4 in brain storage bodies of Tibetan terriers with hereditary neuronal ceroid lipofuscinosis [PDF]

, 2007
The neuronal ceroid lipofuscinoses (NCLs) are inherited neurodegenerative diseases characterized by massive accumulation of autofluorescent storage bodies in neurons and other cells. A late-onset form of NCL occurs in Tibetan terrier dogs.
Johnson, Gary S., Katz, Martin L., Mooney, Brian P., Sanders, Douglas N., 1973-   +3 more
core   +1 more source

RNA‐Seq of Cultured Peripheral Blood Lymphocytes Improves Identification of Cryptic Splicing Defects in Rare Disease Diagnostics

Human Mutation, Volume 2026, Issue 1, 2026.
Accurate identification of the genetic determinants of rare diseases is essential for effective recurrence‐risk management and informed reproductive decision‐making. Although whole‐exome sequencing (WES) and whole‐genome sequencing (WGS) have significantly improved diagnostic capabilities, a subset of affected families still receives no definitive ...
Jinlin Ren, Congling Dai, Fei Meng, Pan Zhang, Chunbo Xie, Wenjuan Xiao, Wenbin He, Shimin Yuan, Xiurong Li, Qianjun Zhang, Weiling Tang, Liang Hu, Zixu Chen, Guangxiu Lu, Juan Du, Sicong Zeng, Ge Lin, Stuart Scott   +17 more
wiley   +1 more source

Proteomic analysis links truncated tau to lysosome motility, autophagy, and endo‐lysosomal dysfunction

Alzheimer's &Dementia, Volume 21, Issue 12, December 2025.
Abstract INTRODUCTION Tauopathies involve progressive accumulation of abnormal tau species that disrupt the autophagy‐lysosomal pathway (ALP), critical for degrading intracellular macromolecules and aggregates, leading to toxicity and cell death. This study examines how overexpression of the N‐terminally truncated Tau35 protein affects proteolytic ...
Despoina Goniotaki, Maximilian Hausherr, Steven Lynham, Ayushin Ale, George Chennell, Stefania Marcotti, Katrin Marcus, Wendy Noble, Diane P. Hanger, Graham Fraser, Deepak P. Srivastava   +10 more
wiley   +1 more source

A clinical case of neuronal ceroid lipofuscinosis type 2

Бюллетень сибирской медицины, 2020
Neuronal ceroid lipofuscinoses (NCL, Batten disease) are a group of inherited neurodegenerative diseases characterized by age-related onset, progressive myoclonus epilepsy, visual impairment and progressive intellectual and motor disorders.
L. S. Kraeva, E. S. Koroleva, V. M. Alifirova, A. V. Kuzmina   +3 more
doaj   +1 more source

Expression profile of a Caenorhabditis elegans model of adult neuronal ceroid lipofuscinosis reveals down regulation of ubiquitin E3 ligase components. [PDF]

, 2015
Cysteine string protein (CSP) is a chaperone of the Dnaj/Hsp40 family of proteins and is essential for synaptic maintenance. Mutations in the human gene encoding CSP, DNAJC5, cause adult neuronal ceroid lipofucinosis (ANCL) which is characterised by ...
Barclay, Jeff, Burgoyne, Robert D, Chen, Xi, McCue, Hannah, Morgan, Alan   +4 more
core   +1 more source

Therapeutic potential of stem cells in pediatric neurology: Insights from clinical trials

Neuroprotection, Volume 3, Issue 4, Page 303-321, December 2025.
Key characteristics of stem cells. Stem cells are essential in therapy due to their ability to self‐renew, ensuring a continuous supply of cells. They can derive from various sources, primarily embryonic tissue, and adult organs such as bone marrow and adipose tissue.
Daniel Bou Najm, Saada Alame
wiley   +1 more source

Linkage analysis of multiplex Caribbean Hispanic families loaded for unexplained early‐onset cases identifies novel Alzheimer's disease loci

Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring, 2018
Introduction Less than 10% of early‐onset Alzheimer's disease (EOAD) is explained by known mutations. Methods We conducted genetic linkage analysis of 68 well‐phenotyped Caribbean Hispanic families without clear inheritance patterns or mutations in APP ...
Rong Cheng, Min Tang, Izri Martinez, Temitope Ayodele, Penelope Baez, Dolly Reyes‐Dumeyer, Rafael Lantigua, Martin Medrano, Ivonne Jimenez‐Velazquez, Joseph H. Lee, Gary W. Beecham, Christiane Reitz   +11 more
doaj   +1 more source

Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease) [PDF]

, 2016
OBJECTIVE: To critically re-evaluate cases diagnosed as adult neuronal ceroid lipofuscinosis (ANCL) in order to aid clinicopathologic diagnosis as a route to further gene discovery.
ANCL Gene Discovery Consortium, ., Anderson, GW, Bahlo, M, Berkovic, SF, Cadieux-Dion, M, Carpenter, S, Cossette, P, Cotman, SL, Damiano, JA, Hildebrand, MS, Jedlickova, I, Kmoch, S, Mole, SE, Oliver, KL, Pristoupilova, A, Sims, KB, Smith, KR, Staropoli, JF   +17 more
core   +1 more source

Neuronal Ceroid-lipofuscinosis in a Cat [PDF]

Veterinary Pathology, 1995
Neuronal ceroid-lipofuscinosis was diagnosed in a young adult domestic short-haired cat euthanatized because of severe progressive neurologic disease. Clinical signs included blindness, seizures, and decreased mentation. An autofluorescent pigment, identified as ceroid-lipofuscin by electron microscopy and staining properties, was found within neurons
R, Bildfell, C, Matwichuk, S, Mitchell, P, Ward   +3 more
openaire   +2 more sources

Trial Readiness: Understanding the Natural History of Rare Diseases

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Inherited metabolic diseases (IMD) represent the largest and still growing group of treatable genetic disorders and are increasingly amenable to targeted interventions that achieve varying degrees of prognostic improvement. Innovative therapies are on the horizon and offer promising opportunities for disease‐changing treatment for a variety of
Thomas Opladen, Ulrike Mütze, Florian Gleich, Sven F. Garbade, Oya Kuseyri Hübschmann, Matthias Zielonka, Stefan Kölker   +6 more
wiley   +1 more source