Results 21 to 30 of about 1,071 (153)

An Unusual Presentation of Neuronal Ceroid Lipofuscinosis With CLN6 Mutation [PDF]

Caspian Journal of Neurological Sciences, 2023
Background: Neuronal ceroid lipofuscinoses (NCL) is a rare progressive neurodegenerative disorder caused by more than 530 mutations of at least 13 different genes (CLN 1-14).
Shahin Koohmanaee, Seyyedeh Azadeh Hoseini Nouri , Vahid Aminzadeh, Manijeh Tabrizi, Reza Bayat, Fatemeh Kharaee , Maryam Shahrokhi, Afagh Hassanzadeh Rad, Saber Najafi Chakoosari, Setila Dalili, Ehsan Kazemnejad Leili   +10 more
doaj   +2 more sources

Tracking sex-dependent differences in a mouse model of CLN6-Batten disease

Orphanet Journal of Rare Diseases, 2019
Background CLN6-Batten disease is a rare neurodevelopmental disorder characterized pathologically by the accumulation of lysosomal storage material, glial activation and neurodegeneration, and phenotypically by loss of vision, motor coordination, and ...
McKayla J. Poppens, Jacob T. Cain, Tyler B. Johnson, Katherine A. White, Samantha S. Davis, Rachel Laufmann, Alexander D. Kloth, Jill M. Weimer   +7 more
doaj   +3 more sources

Natural history of retinal degeneration in ovine models of CLN5 and CLN6 neuronal ceroid lipofuscinoses [PDF]

Scientific Reports, 2022
Neuronal ceroid lipofuscinoses (NCL; Batten disease) are a group of inherited neurodegenerative diseases with a common set of symptoms including cognitive and motor decline and vision loss.
S. J. Murray, N. L. Mitchell
doaj   +2 more sources

A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transfer [PDF]

Journal of Clinical Investigation, 2020
Lysosomal enzymes are synthesized in the endoplasmic reticulum (ER) and transferred to the Golgi complex by interaction with the Batten disease protein CLN8 (ceroid lipofuscinosis, neuronal, 8). Here we investigated the relationship of this pathway with CLN6, an ER-associated protein of unknown function that is defective in a different Batten disease ...
Marco Sardiello, Rui Chen, Pengcheng Zhang   +2 more
exaly   +5 more sources

Single-cell and machine learning integration reveals ferroptosis-driven immune landscapes for melanoma stratification [PDF]

Frontiers in Immunology
BackgroundFerroptosis, a regulated form of cell death, has emerged as a critical modulator of melanoma's tumor progression and immune evasion. However, its integration with the tumor immune microenvironment (TME) and clinical prognostication remains ...
Lei Wang, Lei Wang, Xueying Jin, Yuchen Wu, Runing Qiu, Jianfang Wang   +5 more
doaj   +2 more sources

Electroretinography data from ovine models of CLN5 and CLN6 neuronal ceroid lipofuscinoses

Data in Brief, 2021
This article presents datasets associated with the research article entitled “Intravitreal gene therapy protects against retinal dysfunction and degeneration in sheep with CLN5 Batten disease” (Murray et al., [1]). The neuronal ceroid lipofuscinoses (NCL;
Katharina N. Russell, Nadia L. Mitchell, Martin P. Wellby, Graham K. Barrell, David N. Palmer   +4 more
doaj   +4 more sources

Gene Therapy Corrects Brain and Behavioral Pathologies in CLN6-Batten Disease [PDF]

Molecular Therapy, 2019
CLN6-Batten disease, a form of neuronal ceroid lipofuscinosis is a rare lysosomal storage disorder presenting with gradual declines in motor, visual, and cognitive abilities and early death by 12-15 years of age. We developed a self-complementary adeno-associated virus serotype 9 (scAAV9) vector expressing the human CLN6 gene under the control of a ...
Kathrin Meyer, Christopher Pierson, Tyler B Johnson   +2 more
exaly   +3 more sources

Intracranial delivery of AAV9 gene therapy partially prevents retinal degeneration and visual deficits in CLN6-Batten disease mice

Molecular Therapy - Methods and Clinical Development, 2021
Batten disease is a family of rare, fatal, neuropediatric diseases presenting with memory/learning decline, blindness, and loss of motor function. Recently, we reported the use of an AAV9-mediated gene therapy that prevents disease progression in a mouse
Kathrin Meyer, Tyler B Johnson, Jonathan Cooper   +2 more
exaly   +3 more sources

Characterisation of early changes in ovine CLN5 and CLN6 Batten disease neural cultures for the rapid screening of therapeutics

Neurobiology of Disease, 2017
Batten disease (neuronal ceroid lipofuscinosis) refers to a group of neurodegenerative lysosomal storage diseases predominantly affecting children. There are currently no effective treatments, and the functions of many of the associated gene products are
Hannah Best, Stephanie Hughes, Beulah Leitch   +2 more
exaly   +3 more sources

Neuronal Ceroid Lipofuscinosis in a Mixed-Breed Dog with a Splice Site Variant in <i>CLN6</i>. [PDF]

Genes (Basel)
A 23-month-old neutered male dog of unknown ancestry presented with a history of progressive neurological signs that included anxiety, cognitive impairment, tremors, seizure activity, ataxia, and pronounced visual impairment. The clinical signs were accompanied by global brain atrophy.
Mhlanga-Mutangadura T, Bullock G, Cerda-Gonzalez S, Katz ML.   +3 more
europepmc   +3 more sources