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242 results on '"Zarivach R"'

3. MAT in complex with SAMH

Author

Simon, H., primary, Kleiner, D., additional, Shmulevich, F., additional, Zarivach, R., additional, Zalk, R., additional, Tang, H., additional, Ding, F., additional, and Bershtein, S., additional

Published
2021
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29. SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome

Author

Perez, Y, Leibson, K, Chabosseau, P, Kadir, R, Volodarsky, M, Halperin, D, Barber-Zucker, S, Shalev, S, Schreiber, R, Gradstein, L, Gurevich, E, Zarivach, R, Rutter, GA, Landau, D, Birk, OS, and Wellcome Trust

Subjects
Male, Clinical Neurology, neurodevelopmental regression, PROTEIN, Cell Cycle Proteins, ZN2+, MITOCHONDRIAL, DISEASE, Cerebro-renal syndrome, 17 Psychology And Cognitive Sciences, Consanguinity, Cytosol, Intellectual Disability, LINKAGE, Homeostasis, Humans, zinc homeostasis, Age of Onset, Cation Transport Proteins, Wnt Signaling Pathway, Science & Technology, Neurology & Neurosurgery, IDENTIFICATION, TRANSPORTER, Neurosciences, Chromosome Mapping, Infant, Nuclear Proteins, Syndrome, 11 Medical And Health Sciences, NEPHRONOPHTHISIS, Arabs, Pedigree, DEFICIENCY, Zinc, HEK293 Cells, Mutation, SLC30A9, Female, Kidney Diseases, Neurosciences & Neurology, Hereditary Sensory and Motor Neuropathy, Life Sciences & Biomedicine, ZnT9, SYSTEM, Genome-Wide Association Study
Abstract

A novel autosomal recessive cerebro - renal syndrome was identified in consanguineous Bedouin kindred: neurological deterioration was evident as of early age, progressing into severe intellectual disability, profound ataxia, camptocormia and oculomotor apraxia. Brain MRI was normal. Four of t he six affected individuals had also early - onset nephropathy with features of tubulo - interstitial nephritis, hypertension and tendency for hyperkalemia, though none had rapid deterioration of renal function. Genome wide linkage analysis identified a ~ 18Mbs disease - associated locus on chro mosome 4 ( maximal logarithm of odds score 4.4 at D4S2971 ; θ =0). Whole exome sequencing identified a single mutation in SLC30A9 within this locus , segregating as expected within the kindred and not found in a homozygous s tate in 300 Bedouin controls . We showed that SLC30A9 (Solute Carrier Family 30 , Member 9 ; ZnT - 9) is ubiquitously expressed with high levels in cerebellum, skeletal muscle, thymus and kidney. Confocal analysis of SH - SY5Y cells overexpressing SLC30A9 fused t o enhanced green fluorescent protein demonstrated vesicular cytosolic localization associated with the endoplasmic reticulum , not co - localizing with endosomal or Golgi markers. SLC30A9 encodes a putative zinc transporter (by similarity) previously associated with Wnt signaling. However, using d ual - l uciferase r eporter a ssay in SH - SY5Y cells we showed that Wnt signaling was not affected by the mutation. Based on protein modeling, the iden tified mutation is expected to affect SLC30A9’s highly conserved cation efflux domain, putatively disrupting its transmembrane helix structure. Cytosolic Zn 2+ measurements in HEK293 cells overexpressing wild - type and mutant SLC30A9 showed lower zinc concen tration within mutant rather than wild - type SLC30A9 cells. This suggests that SLC30A9 has zinc transport properties affecting intracellular zinc homeostasis, and that the molecular mechanism of the disease is through defective function of this novel activi ty of SLC30A9 rather than by a defect in its previously described role in transcriptional activation of Wnt signaling.

Published
2016

38. MamB

Author

Zeytuni, N., primary, Keren, N., additional, Davidov, G., additional, and Zarivach, R., additional

Published
2017
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42. MBP-MamC magnetite-interaction component mutant-D70A

Author

Nudelman, H., primary, Tercedor, C.V., additional, Kolusheva, S., additional, Gonzalez, T.P., additional, Widdrat, M., additional, Grimberg, N., additional, Levi, H., additional, Nelkenbaum, O., additional, Davidove, G., additional, Faivre, D., additional, Jimenez-Lopez, C., additional, and Zarivach, R., additional

Published
2016
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47. Early encounters of a nascent membrane protein : specificity and timing of contacts inside and outside the ribosome

Author

Houben, E.N.G., Zarivach, R., Brunner, J, Oudega, B., Luirink, S., and Molecular Microbiology

Abstract

An unbiased photo-cross-linking approach was used to probe the "molecular path" of a growing nascent Escherichia coli inner membrane protein (IMP) from the peptidyl transferase center to the surface of the ribosome. The nascent chain was initially in proximity to the ribosomal proteins L4 and L22 and subsequently contacted L23, which is indicative of progression through the ribosome via the main ribosomal tunnel. The signal recognition particle (SRP) started to interact with the nascent IMP and to target the ribosome-nascent chain complex to the Sec-YidC complex in the inner membrane when maximally half of the transmembrane domain (TM) was exposed from the ribosomal exit. The combined data suggest a flexible tunnel that may accommodate partially folded nascent proteins and parts of the SRP and SecY. Intraribosomal contacts of the nascent chain were not influenced by the presence of a functional TM in the ribosome. © The Rockefeller University Press.

Published
2005

48. MamM V260R

Author

Zeytuni, N., primary, Davidov, G., additional, and Zarivach, R., additional

Published
2014
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