Results 171 to 180 of about 80,232 (259)

3′UTR variants of ALS‐linked RNAs modify subcellular and cellular phenotypes

The FEBS Journal, EarlyView.
Our study demonstrates that alternative 3′UTR variants of ALS‐linked transcripts modulate subcellular RNA localization and cytoskeletal architecture. NEFH 3′UTR‐Long promotes nuclear RNA clustering, while SOD1 3′UTR‐Long reduces filopodia formation. These results suggest that 3′UTRs, independent of coding sequences, can influence neuronal phenotypes ...
Melis Savasan‐Sogut, Danae Campos‐Melo, Michael J. Strong   +2 more
wiley   +1 more source

Systematic Phenotyping and Molecular Analysis of the Woozy Mouse: A Preclinical Model of Cerebellar Ataxia. [PDF]

Mol Neurobiol
Bellia F, Amodei L, Ruggieri AG, Potenza F, Viele M, Bomba M, Del Pizzo F, Iezzi M, Granzotto A, Federici L, Sallese M.   +10 more
europepmc   +1 more source

Regulation of PHOX2B gene expression by the long non‐coding natural antisense RNA PHOX2B‐AS1

The FEBS Journal, EarlyView.
PHOX2B is a transcription factor essential for autonomic nervous system development. We identify and characterize PHOX2B‐AS1, a human long non‐coding antisense transcript at the PHOX2B locus, along with its murine counterpart. Our findings reveal bidirectional transcription and reciprocal regulation: PHOX2B activates PHOX2B‐AS1, whereas PHOX2B‐AS1 ...
Simona Di Lascio, Ana Lucia Cuadros Gamboa, Martina Bertocchi, Filippo Chiesa, Francesca Cargnin, Ettore Mosca, Paride Pelucchi, Viviana Tritto, Stefania Corti, Isabella Ceccherini, Paola Riva, Roberta Benfante, Diego Fornasari   +12 more
wiley   +1 more source

Seronegative Immune-Mediated Cerebellar Ataxia in Children: Autoimmune Encephalitis Spectrum Disorder or a Distinct Entity? [PDF]

Children (Basel)
Maria G, Chrysanthi T, Eudokia S, Theofanis P, Nikolaos K, Constantinos K, John T, Dionysia G.   +7 more
europepmc   +1 more source

Clinical characteristics of autoimmune glial fibrillary acidic protein astrocytopathy in adults: a retrospective analysis of 9 cases

Internal Medicine Journal, EarlyView.
Abstract Background To identify early diagnostic clues, we analysed cerebrospinal fluid and serum biomarkers in patients with autoimmune glial fibrillary acidic protein astrocytopathy (GFAP‐A) and compared biomarker trends with those in patients with viral meningoencephalitis, tuberculous meningoencephalitis, and anti‐N‐methyl‐D‐aspartate receptor ...
Siruo Guo, Jinyu Huang, Tingting Liu, Wu Yang   +3 more
wiley   +1 more source

Autoimmune cerebellar ataxia with anti-Homer3 antibodies associated with herpesvirus infection: a case report and literature review. [PDF]

Front Immunol
Song DJ, Dong R, Liu YM, Wang T, Ma J.
europepmc   +1 more source

Molecular insights into electroreceptor ribbon synapses from differential gene expression in sturgeon lateral line organs

Journal of Anatomy, EarlyView.
The expression of various genes involved in synapse development, stability and/or function was studied in developing mechanosensory neuromasts and electrosensory ampullary organs in sterlet sturgeon. Most were shared, including Slc17a8, Slc1a3 and Nrxn3, but Cbln18 was neuromast‐restricted and Tulp1 was ampullary organ‐restricted.
Alexander S. Campbell, Martin Minařík, David Buckley, Tanmay Anand, David Gela, Martin Pšenička, Clare V. H. Baker   +6 more
wiley   +1 more source

<i>RAB24</i> Missense Variant in Dogs with Cerebellar Ataxia. [PDF]

Genes (Basel)
Schwarz C, Wennemuth J, Guevar J, Dörn F, Jagannathan V, Leeb T.   +5 more
europepmc   +1 more source

A New Variant in the NALCN Channel Is Responsible for Cerebellar Ataxia and Cognitive Impairment. [PDF]

Genes (Basel)
Cabrita Pinto RL, Fancellu R, Markushi TB, Viaggi S, Testa B, Conteduca G, Fitzsimmons L, Coviello D, Covone AE.   +8 more
europepmc   +1 more source

Fatal Chronic Varicella‐Zoster Viral Infection in a Young Man With Chediak–Higashi Syndrome

Pediatric Dermatology, EarlyView.
ABSTRACT Chediak–Higashi syndrome (CHS) is a rare autosomal recessive primary immunodeficiency characterized by partial oculocutaneous albinism, neurologic involvement, and a predisposition to severe infections. Patients are particularly susceptible to developing hemophagocytic lymphohistiocytosis (HLH), which significantly worsens prognosis. We report
Albane Badet, Clément Pruvot, Zoé Manssens, Wadih Abou‐Chahla, Sébastien Buche   +4 more
wiley   +1 more source