Embo Molecular Medicine
Papers 1450
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#1Antonietta Tarallo (University of Naples Federico II)H-Index: 7
#2Carla Damiano (University of Naples Federico II)H-Index: 3
Last. Caterina Porto (University of Naples Federico II)H-Index: 9
view all 19 authors...
Pompe disease is a metabolic myopathy due to acid alpha-glucosidase deficiency. In addition to glycogen storage, secondary dysregulation of cellular functions, such as autophagy and oxidative stress, contributes to the disease pathophysiology. We have tested whether oxidative stress impacts on enzyme replacement therapy with recombinant human alpha-glucosidase (rhGAA), currently the standard of care for Pompe disease patients, and whether correction of oxidative stress may be beneficial for rhGA...
#1Qiong Pan (Third Military Medical University)H-Index: 1
#2Gang Luo (Third Military Medical University)
Last. Ling Li (Third Military Medical University)
view all 23 authors...
Semaphorin 7A (SEMA7A) is a membrane-bound protein that involves axon growth and other biological processes. SEMA7A mutations are associated with vertebral fracture and Kallmann syndrome. Here, we report a case with a mutation in SEMA7A that displays familial cholestasis. WGS reveals a SEMA7AR148W homozygous mutation in a female child with elevated levels of serum ALT, AST, and total bile acid (TBA) of unknown etiology. This patient also carried a SLC10A1S267F allele, but Slc10a1S267F homozygous...
#1Ignacio Fernando Hall (National Research Council)H-Index: 3
#2Montserrat ClimentH-Index: 5
view all 12 authors...
The role of single nucleotide polymorphisms (SNPs) in the etiopathogenesis of cardiovascular diseases is well known. The effect of SNPs on disease predisposition has been established not only for protein coding genes but also for genes encoding microRNAs (miRNAs). The miR-143/145 cluster is smooth muscle cell-specific and implicated in the pathogenesis of atherosclerosis. Whether SNPs within the genomic sequence of the miR-143/145 cluster are involved in cardiovascular disease development is not...
#1Indranil Malik (UM: University of Michigan)H-Index: 9
#2Yi-Ju Tseng (UM: University of Michigan)
Last. Peter K. Todd (UM: University of Michigan)H-Index: 27
view all 7 authors...
Transcribed CGG repeat expansions cause neurodegeneration in Fragile X-associated tremor/ataxia syndrome (FXTAS). CGG repeat RNAs sequester RNA-binding proteins (RBPs) into nuclear foci and undergo repeat-associated non-AUG (RAN) translation into toxic peptides. To identify proteins involved in these processes, we employed a CGG repeat RNA-tagging system to capture repeat-associated RBPs by mass spectrometry in mammalian cells. We identified several SR (serine/arginine-rich) proteins that intera...
#1Morgan Brisset (University of Melbourne)
#2Mélodie Grandin (University of Melbourne)H-Index: 4
Last. Frédéric Hollande (University of Melbourne)H-Index: 31
view all 5 authors...
Dependence receptors are known to promote survival and positive signaling such as proliferation, migration, and differentiation when activated, but to actively trigger apoptosis when unbound to their ligand. Their abnormal regulation was shown to be an important feature of tumorigenesis, allowing cancer cells to escape apoptosis triggered by these receptors while promoting in parallel major aspects of tumorigenesis such as proliferation, angiogenesis, invasiveness, and chemoresistance. This invo...
#1Tien-Fen Kuo (AS: Academia Sinica)H-Index: 5
#2Shuo-Wen Hsu (AS: Academia Sinica)
Last. Tuan-Nan Wen (AS: Academia Sinica)H-Index: 10
view all 16 authors...
Loss of β-cell number and function is a hallmark of diabetes. β-cell preservation is emerging as a promising strategy to treat and reverse diabetes. Here, we first found that Pdia4 was primarily expressed in β-cells. This expression was up-regulated in β-cells and blood of mice in response to excess nutrients. Ablation of Pdia4 alleviated diabetes as shown by reduced islet destruction, blood glucose and HbA1c, reactive oxygen species (ROS), and increased insulin secretion in diabetic mice. Strik...
#1Özlem TüreciH-Index: 59
#2Ugur Sahin (University of Mainz)H-Index: 69
Interview with EMBO Members Ozlem Tureci and Ugur Sahin, BioNTech, conducted by science journalist Kai Kupferschmidt.
#1Christen L. Ebens (UMN: University of Minnesota)H-Index: 11
Recessive dystrophic epidermolysis bullosa (RDEB) is an inherited blistering skin disease, resulting from biallelic mutations in COL7A1, the gene encoding type VII collagen (C7). At mucocutaneous barriers, tissue integrity relies upon linked extracellular matrix (ECM) proteins forming a physiologic suture, connecting basal epidermal keratinocytes to the underlying dermis. C7 secreted from epidermal keratinocytes and dermal fibroblasts homotrimerizes in the upper dermis to form anchoring fibrils,...
#1René G. Feichtinger (Paracelsus Private Medical University of Salzburg)H-Index: 26
#2Andreas Hüllen (Heidelberg University)H-Index: 1
Last. Johannes A. Mayr (Paracelsus Private Medical University of Salzburg)H-Index: 49
view all 11 authors...
Congenital disorders of glycosylation are a genetically and phenotypically heterogeneous family of diseases affecting the co- and posttranslational modification of proteins. Using exome sequencing, we detected biallelic variants in GFUS (NM_003313.4) c.[632G>A];[659C>T] (p.[Gly211Glu];[Ser220Leu]) in a patient presenting with global developmental delay, mild coarse facial features and faltering growth. GFUS encodes GDP-L-fucose synthase, the terminal enzyme in de novo synthesis of GDP-L-fucose, ...
2 CitationsSource
#1Paul Wuh-Liang Hwu (NTU: National Taiwan University)H-Index: 4
#2Karl L. Kiening (Heidelberg University)H-Index: 31
Last. Shin-ichi Muramatsu (Jichi Medical University)H-Index: 44
view all 10 authors...
This commentary provides an overview of the putamen as an established target site for gene therapy in treating aromatic l-amino acid decarboxylase (AADC) deficiency and Parkinson's disease, two debilitating neurological disorders that involve motor dysfunction caused by dopamine deficiencies. The neuroanatomy and the function of the putamen in motor control provide good rationales for targeting this brain structure. Additionally, the efficacy and safety of intraputaminal gene therapy demonstrate...
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Cancer research
Cell biology