Results 11 to 20 of about 955 (143)

Genetic analysis of a novel SUMF1 variation associated with a late infantile form of multiple sulfatase deficiency [PDF]

Journal of Clinical Laboratory Analysis, 2022
AbstractBackgroundMultiple sulfatase deficiency (MSD) (MIM#272200) is an ultra‐rare autosomal recessive lysosomal storage disorder caused by mutation of the Sulfatase Modifying Factor 1 (SUMF1) gene.MethodsHerein, we report an eight‐year‐old boy with a late infantile form of multiple sulfatase deficiency.
Dingyuan Ma, Yuguo Wang, Chunyu Luo
exaly   +4 more sources

SUMF1 enhances sulfatase activitiesin vivoin five sulfatase deficiencies [PDF]

Biochemical Journal, 2007
Sulfatases are enzymes that hydrolyse a diverse range of sulfate esters. Deficiency of lysosomal sulfatases leads to human diseases characterized by the accumulation of either GAGs (glycosaminoglycans) or sulfolipids. The catalytic activity of sulfatases resides in a unique formylglycine residue in their active site generated by the post-translational ...
FRALDI, ALESSANDRO, A. Biffi, A. Lombardi, I. Visigalli, S. Pepe, SETTEMBRE, CARMINE, E. Nusco, AURICCHIO, ALBERTO, L. Naldini, BALLABIO, ANDREA, M. P. C.o.s.m.a.   +10 more
openaire   +5 more sources

Sulfatase modifying factors control the timing of zebrafish convergence and extension morphogenesis [PDF]

Nature Communications
Convergence and extension (C&E) cell movements that elongate the primary embryonic axis are precisely timed during vertebrate gastrulation, but mechanisms controlling their onset remain unknown.
Ailen Soledad Cervino, Amrita Basu, Ryan J. Weiss, Gursimran Kaur Bajwa, Rubén Marín-Juez, Sandra L. Grimm, Cristian Coarfa, Margot Kossmann Williams   +7 more
doaj   +2 more sources

ITPR1 Deletion in a Patient With Sensory Ataxic Neuropathy and Sjögren Syndrome. [PDF]

J Peripher Nerv Syst
ABSTRACT Background Sensory ataxic neuropathies (SAN) are rare large fibre sensory neuropathies characterised by progressive sensory loss and ataxia. They may be inherited or acquired. When inherited they are more commonly seen as part of a broader syndrome involving cerebellar ataxia or mitochondrial dysfunction.
Haddad S, Poh R, Hehir J, Polke JM, Blake J, Reilly MM.   +5 more
europepmc   +2 more sources

Multi-omics reveals the immune and metabolic characteristics and associations in non-mucinous ovarian cancer [PDF]

Journal of Ovarian Research
Background The complex metabolic and immune characteristics of ovarian cancer and their interconnections can promote tumor immune evasion, ultimately leading to immunotherapy failure.
Hongkai Yu, Chang You, Ting Xu, Ziyan Zhao, Danyang Wang, Lu Hu, Liangzhe Dai, Wanlin Zheng, Luyao Wang, Minghui Ji, Tianchi Zhuang, Yingqi Yang   +11 more
doaj   +2 more sources

Identification of a copper metabolism‐related gene signature for predicting prognosis and immune response in glioma [PDF]

Cancer Medicine, 2023
Background Gliomas are highly refractory intracranial cancers characterized by genetic and transcriptional heterogeneity. However, therapeutic options are limited.
Ling Li, Wenyuan Leng, Junying Chen, Shaoying Li, Bingxi Lei, Huasong Zhang, Huiying Zhao   +6 more
doaj   +2 more sources

Plasma proteomic profiling of AD, PD and FTD in a large sample of individuals from the global neurodegeneration proteomics consortium (GNPC) [PDF]

Alzheimers Dement
Abstract Background The Global Neurodegeneration Proteomics Consortium (GNPC) aims to advance understanding of neurodegenerative diseases (ND) through comprehensive collaborative proteomic analysis. Here, we present the first analyses from the cross‐sectional profiling workstream, in which we studied disease specific plasma proteomic profiles across n =
Ali M, Chen Y, Xu Y, Heo G, Timsina J, Liu M, Sung Y, Binette A, Tijms B, Winchester L, Cruchaga C.   +10 more
europepmc   +2 more sources

Functional correction of CNS lesions in an MPS-IIIA mouse model by intracerebral AAV-mediated delivery of sulfamidase and SUMF1 genes [PDF]

Human Molecular Genetics, 2007
Mucopolysaccharidosis type IIIA (MPS-IIIA or Sanfilippo syndrome) is a lysosomal storage disorder caused by the congenital deficiency of sulfamidase (SGSH) enzyme and consequent accumulation of partially degraded heparan sulfate (HS) in lysosomes. The central nervous system (CNS) is the predominant site of tissue damage in MPS-IIIA.
FRALDI, ALESSANDRO, K. Hemsley, A. Crawley, A. Lombardi, A. Lau, L. Sutherland, AURICCHIO, ALBERTO, BALLABIO, ANDREA, J.J. Hopwood   +8 more
openaire   +5 more sources

Multiple Sulfatase Deficiency from an Ophthalmologist’s Perspective—Case Report and Literature Review [PDF]

Children, 2023
Multiple sulfatase deficiency (MSD) is an extremely rare autosomal recessively inherited disease with a prevalence of 1:500.000 caused by mutations on the sulfatase-modifying-Factor 1 gene (SUMF1).
Michael P. Schittkowski, Sabine Naxer, Mohamed Elabbasy, Leonie Herholz, Vivian Breitling, Alan Finglas, Jutta Gärtner, Lars Schlotawa   +7 more
doaj   +2 more sources

Genetic insights into therapeutic targets for gout: evidence from a multi-omics mendelian randomization study [PDF]

Hereditas
Background Considering that the treatment of gout is poor, we performed a Mendelian randomization (MR) study to identify candidate biomarkers and therapeutic targets for gout.
Mingyuan Fan, Zhangjun Yun, Jiushu Yuan, Sai Zhang, Hongyan Xie, Dingyi Lu, Haipo Yuan, Hong Gao   +7 more
doaj   +2 more sources