Results 91 to 100 of about 955 (143)

SUMF1 wt Allele [PDF]

, 2020
openaire   +1 more source

Heterozygous deletion of ITPR1, but not SUMF1, in spinocerebellar ataxia type 16

Heterozygous deletion of ITPR1, but not SUMF1, in spinocerebellar ataxia type 16
We have previously mapped autosomal dominant spinocerebellar ataxia (SCA) 16 to 3p26, overlapping with the locus of SCA15. Recently, partial deletions of ITPR1 and the neighbouring SUMF1 in the SCA15 and two additional families were reported. In the present study we determined the copy number of these genes by real time quantitative polymerase chain ...
openaire  

Identification of 6 cuproptosis-related genes for active ulcerative colitis with both diagnostic and therapeutic values. [PDF]

Medicine (Baltimore), 2023
Zou M, Zhang W, Zhu Y, Xu Y.
europepmc   +1 more source

Where Leukodystrophy and Storage Disorder Meet: A Rare Cause of Neurodegeneration. [PDF]

Ann Indian Acad Neurol, 2023
Medha A, Pandey A, Saini AG, Bhatia V.
europepmc   +1 more source

Therapy of sulfatase deficiencies

, 2019
The present invention related to improved gene therapy to treat sulfatase deficiencies, preferably via co-delivery of Sulfatase enzymes and SUMF1 ...
SORRENTINO NC, FRALDI A, Ballabio A
core  

Copy Number Variant Analysis of Spinocerebellar Ataxia Genes in a Cohort of Dutch Patients With Cerebellar Ataxia. [PDF]

Neurol Genet, 2023
Ghorbani F, de Boer EN, Benjamins-Stok M, Verschuuren-Bemelmans CC, Knapper J, de Boer-Bergsma J, de Vries JJ, Sikkema-Raddatz B, Verbeek DS, Westers H, van Diemen CC.   +10 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

Copper in Human Health and Disease: Insights from Inherited Disorders. [PDF]

Physiology (Bethesda)
Petruzzelli R, Polishchuk EV, Polishchuk RS.   +2 more
europepmc   +1 more source

MicroRNA Profiling and Engineering of CHO Cell Lines Stably Expressing Difficult-to-Express Lysosomal Protein

, 2019
Difficult-to-express (DTE) recombinant proteins like multi-specific proteins, DTE monoclonal antibodies and lysosomal enzymes, have seen difficulties in manufacturability using Chinese hamster ovary (CHO) cells and other mammalian cells as production ...
Amadi, Ifeanyi
core   +1 more source

Putative identification of CASTOR1 as one of the targets of ganoderic acid a via thermal proteome profiling and molecular docking. [PDF]

Front Pharmacol
Chen A, Xu W, Wang Y, Liang H, Chen D.
europepmc   +1 more source