Results 51 to 60 of about 795 (128)

The neuronal ceroid lipofuscinosis protein Cln7 regulates neural development from the post-synaptic cell [PDF]

, 2018
Abstract The neuronal ceroid lipofuscinoses (NCLs) are a group of fatal, monogenic neurodegenerative disorders with an early onset in infancy or childhood. Despite identification of the genes disrupted in each form of the disease, their normal cellular role and how their deficits lead to disease pathology is not fully
Connolly, Kyle J., O’Hare, Megan B., Mohammed, Alamin, Aitchison, Katelyn M., Anthoney, Niki C., Taylor, Matthew J., Stewart, Bryan A., Tuxworth, Richard I., Tear, Guy   +8 more
openaire   +1 more source

Prodromal pathogenesis of CLN7 Batten Disease revealed by multimodal biomarkers in macaques

Abstract Neuronal ceroid lipofuscinosis type 7 (CLN7) is a devastating paediatric neurodegenerative disorder with no cure and limited natural history data to guide therapeutic development. Here, we present the first multimodal characterization of prodromal and early-stage CLN7 disease in Japanese macaques carrying a ...
William A Liguore, Winde Hilven, Lili Lurye, Jordy Akkermans, Marion Decrop, Robert Zweig, Larry S. Sherman, Jodi L McBride, Daniele Bertoglio, Alison R Weiss   +9 more
openaire   +2 more sources

Joining forces to develop individualized antisense oligonucleotides for patients with brain or eye diseases: the example of the Dutch Center for RNA Therapeutics

Therapeutic Advances in Rare Disease
Antisense oligonucleotides (ASOs) offer versatile tools to modify the processing and expression levels of gene transcripts. As such, they have a high therapeutic potential for rare genetic diseases, where applicability of each ASO ranges from thousands ...
Annemieke Aartsma-Rus, Rob W.J. Collin, Ype Elgersma, Marlen C. Lauffer, Willeke van Roon-Mom   +4 more
doaj   +1 more source

Specific Alleles of CLN7 / MFSD8 , a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy

Investigative Opthalmology & Visual Science, 2017
Recessive mutations in CLN7/MFSD8 usually cause variant late-infantile onset neuronal ceroid lipofuscinosis (vLINCL), a poorly understood neurodegenerative condition, though mutations may also cause nonsyndromic maculopathy. A series of 12 patients with nonsyndromic retinopathy due to novel CLN7/MFSD8 mutation combinations were investigated in this ...
Khan, KN, El-Asrag, ME, Ku, CA, Holder, GE, McKibbin, M, Arno, G, Poulter, JA, Carss, K, Bommireddy, T, Bagheri, S, Bakall, B, Scholl, HP, Raymond, FL, Toomes, C, Inglehearn, CF, Pennesi, ME, Moore, AT, Michaelides, M, Webster, AR, Ali, M   +19 more
openaire   +4 more sources

Cellular and molecular characterisation of MFSD8 mutations associated with the variant late-infantile NCL CLN7

Batten disease (BD), also known as neuronal ceroid lipofuscinoses (NCLs), is a collective group of inherited neurodegenerative disorders. NCLs are the most prevalent cause of dementia in children, and they are distinguished by a common symptomatology that includes epileptic seizures, visual impairment, and a progressive decline in cognitive and ...
openaire   +2 more sources

Rare Genetic Diseases with Founder Effect in Roma Children. [PDF]

Life (Basel)
Drobňaková S, Andrejková M, Šaligová J, Potočňáková Ľ, Vargová V, Kuchta M, Beňačka R, Barkai L.   +7 more
europepmc   +1 more source

Progress and challenges in intrathecal gene therapy for neurological disorders. [PDF]

EBioMedicine
Kagiava A, Chen X, Finkel RS, Gray SJ, Kleopa KA.   +4 more
europepmc   +1 more source

Broadening applications for intrathecal gene therapy: a case for lysosomal storage diseases. [PDF]

EBioMedicine
eBioMedicine.
europepmc   +1 more source

PPARα and RXRα in the regulation of neuronal ceroid lipofuscinosis genes: implications for Batten disease therapy. [PDF]

NeuroImmune Pharm Ther
Chandra S, Pahan K.
europepmc   +1 more source

Facing the challenge of effective dosing, safety, and timing of intrathecal gene therapy for neurological disorders. [PDF]

EBioMedicine
Kagiava A, Kleopa KA.
europepmc   +1 more source