Mutations involving spectrin. Medical search. Frequent questions

Spectrin is an actin crosslinking and molecular scaffold protein that links the plasma membrane to the actin cytoskeleton, and functions in the determination of cell shape, arrangement of transmembrane proteins, and organization of organelles. (wikipedia.org)
It forms weaker tetramer interactions than non-erythrocytic alpha spectrin, which may increase the plasma membrane elasticity and deformability of red blood cells. (wikipedia.org)
The primary building blocks of the membrane skeleton are alpha (α)-spectrin and beta (β)-spectrin, which bind to each other to form long, stable dimers. (basicmedicalkey.com)
Self-association of spectrin dimers and docking of spectrin to a complex of actin filaments, with the aid of protein 4.1, creates a flexible, branching, hexagonal network that covers the entire inner surface of the membrane. (basicmedicalkey.com)
The membrane skeleton is composed principally of spectrin ( green ), which binds to itself at one end and attaches to short filaments of F-actin ( blue ) at the other end, aided by protein 4.1 ( orange ). (basicmedicalkey.com)
The membrane skeleton is attached to band 3 ( pink ), the anion exchanger, via ankyrin near the spectrin self-association site, and to band 3 via proteins 4.1 and 4.2 ( yellow ) at the actin end of spectrin. (basicmedicalkey.com)
The three subunits are encoded by distinct genes and belong to a family of membrane skeletal proteins involved in the assembly of spectrin-actin network in erythrocytes and at sites of cell-cell contact in epithelial tissues. (utsouthwestern.edu)
Mechanistically, β-Spectrin is required for the localization of α-Spectrin and Ankyrin to the postsynaptic membrane. (rupress.org)
It occurs in a large number of eukaryotic proteins involved in signal transduction, cell polarization and membrane--cytoskeleton interactions. (rcsb.org)
The fusion process involving the S the rest of the plasma membrane, were also active sites of virus release. (cdc.gov)
These membrane whorls are the infected cells was enhanced and could be involved in postulated to be replication complexes for the virus since transporting and expelling the progeny virus particles. (cdc.gov)
Our laboratory focuses on the organization and functions of the spectrin-based membrane skeleton. (dana-farber.org)
Ankyrins link integral membrane proteins to the spectrin-based membrane skeleton. (dana-farber.org)
While many factors contribute, recent evidence indicates that the spectrin based membrane skeleton plays a pivotal role in these processes. (yale.edu)
Our recent studies implicate a major and unexpected role for the spectrin skeleton in the pathways of vesicle trafficking and membrane assembly. (yale.edu)
Spectrin Oligomerization is Cooperatively Coupled to Membrane Assembly: A Linkage Targeted by Many Hereditary Hemolytic Anemias? (yale.edu)
Spectrins are principle components of a cell's membrane-cytoskeleton and are composed of two alpha and two beta spectrin subunits. (thermofisher.com)

Visual acuity (VA) in children with LCA varies significantly among patients with differing gene mutations and can be as low as no light perception (NLP). (aao.org)

This gene is one member of a family of alpha-spectrin genes. (wikipedia.org)
We give examples of mutations in genes that are predicted to be deleterious and may have a role in disease. (biomedcentral.com)
There are currently 20 retinal genes whose mutations cause the phenotype of LCA, accounting for about 70% of the cases, while the genes underlying the remaining 30% of patients await discovery. (aao.org)
In this study, by targeted next-generation sequencing of 414 known deafness genes, we identified compound heterozygous mutations p.R34X/p.M413T in TMC1 and p.S3417del/p.R1407T in MYO15A in two recessive Chinese Han deaf families. (hindawi.com)
Using targeted next-generation sequencing of 414 known deafness genes, we identified compound heterozygous mutations in TMC1 and MYO15A as the genetic causes of the hearing loss in those families. (hindawi.com)
Identification of regions interacting with ovoD mutations: potential new genes involved in germline sex determination or differentiation in Drosophila melanogaster. (uchicago.edu)

In this study, we document a role for the postsynaptic Spectrin skeleton in this process. (rupress.org)
Although Ankyrin is not required for the localization of the Spectrin skeleton to the neuromuscular junction, it contributes to Spectrin-mediated synapse development. (rupress.org)
The Spectrin-Ankyrin Skeleton Controls CD45 Surface Display and Interleukin-2 Production Pradhan D, Morrow J . The Spectrin-Ankyrin Skeleton Controls CD45 Surface Display and Interleukin-2 Production. (yale.edu)

4) A heterozygous patient with a -spectrin anomaly ( -spectrin Nagoya) with the frameshift mutation of SPTB. (forexsignal300.com)

Structural and functional heterogeneity of alpha spectrin mutations involving the spectrin heterodimer self-association site: relationships to hematologic expression of homozygous hereditary elliptocytosis and hereditary pyropoikilocytosis. (medscape.com)

Mutations in this gene result in a variety of hereditary red blood cell disorders, including elliptocytosis type 2, pyropoikilocytosis, and spherocytic hemolytic anemia. (wikipedia.org)
1992). "A common type of the spectrin alpha I 46-50a-kD peptide abnormality in hereditary elliptocytosis and pyropoikilocytosis is associated with a mutation distant from the proteolytic cleavage site. (wikipedia.org)
Hereditary pyropoikilocytosis is an autosomal recessive disorder that produces a molecular defect in spectrin and a partial spectrin deficiency. (medscape.com)
Current understanding suggests that this phenotype results when one parent has hereditary elliptocytosis and the other parent carries a gene that causes a spectrin deficiency. (medscape.com)
The common hereditary elliptocytosis-associated a-spectrin L260P mutation perturbs erythrocyte membranes by stabilizing spectrin in the closed dimer conformation. (medscape.com)
Coetzer TL, Palek J. Partial spectrin deficiency in hereditary pyropoikilocytosis. (medscape.com)
The updated beta-spectrin mutations in patients with hereditary spherocytosis by targeted next-generation sequencing. (cdc.gov)

A C282Y heterozygous mutation was found in 7/201 (3.4%) and H63D homozygous and heterozygous mutation were found in 2/201 (1.0%) and 46/201 (22.9%), respectively. (scielo.org)
Regarding the biochemical parameters, no differences were observed between HFE heterozygous and mutation-negative patients, although ferritin levels were not higher among patients with the H63D mutation (P = 0.08). (scielo.org)
We previously characterized "knock-in" mice heterozygous for this mutation (p.W2711X), and have now investigated homozygous mice using protein and mRNA expression analyses, mass spectrometry, and extensive immunolocalization and ultrastructural studies. (omicsdi.org)

Auditory features of the affected individuals are consistent with that previously reported for recessive mutations in TMC1 and MYO15A . (hindawi.com)
It has been reported that mutations in TMC1 may cause both prelingual profound autosomal recessive deafness DFNB7/11 and postlingual progressive autosomal dominant deafness DFNA36 [ 13 ]. (hindawi.com)
To date, more than 60 mutations in TMC1 are reported worldwide [ 15 ], with the recessive mutations predominantly associated with prelingual severe-to-profound hearing loss [ 15 , 16 ]. (hindawi.com)
Female sterile (1) yolkless: a recessive female sterile mutation in Drosophila melanogaster with depressed numbers of coated pits and coated vesicles within the developing oocytes. (uchicago.edu)
Mutations in the synaptic nuclear envelope protein 1 ( SYNE1 ) gene were first discovered in 2007 among French-Canadian pedigrees to cause autosomal recessive cerebellar ataxia, a condition referred to as autosomal recessive cerebellar ataxia type 1 (ARCA1). (e-jmd.org)

The two novel mutations identified in this study, p.M413T in TMC1 and p.R1407T in MYO15A , are classified as likely pathogenic according to the guidelines of ACMG. (hindawi.com)

We use transgenic double-stranded RNA to selectively eliminate α-Spectrin, β-Spectrin, or Ankyrin. (rupress.org)

The encoded protein is primarily composed of 22 spectrin repeats which are involved in dimer formation. (wikipedia.org)
The SYNE1 gene encodes nuclear envelope spectrin 1 (Nesprin-1), an exceptionally large protein composed of 8,797 amino acids and 2 calponin homology domains, followed by 74 spectrin repeats and a C-terminal Klarsicht/ANC-1/Syne homology (KASH) domain. (e-jmd.org)

These loops are different in tyrosine kinase and spectrin SH3 domains. (rcsb.org)

It is one of the most common causes of ADNSHL in Mideast countries due to prevalent consanguineous marriage [ 22 , 23 ], with majority associated with prelingual severe-to-profound hearing loss and mutations in exon 2 leading to a milder auditory phenotype [ 23 ]. (hindawi.com)
C3883T mutations in exon 31. (e-jmd.org)

Recombinant antibodies are monoclonal, but their production involves in vitro genetic manipulation. (cellsignal.com)
The genetic alteration causative of SCAN-1 is a mutation altering the function of a gene called tdp1 (tyrosyl- DNA phosphodiesterase 1). (ataxia.org)
Our study expanded the mutation spectrums of TMC1 and MYO15A and illustrated that genotype-phenotype correlation in combination with next-generation sequencing may improve the accuracy for genetic diagnosis of deafness. (hindawi.com)
Genetic evidence that the ovo locus is involved in Drosophila germ line sex determination. (uchicago.edu)
Genetic studies of spectrin in the larval fat body of Drosophila melanogaster: evidence for a novel lipid uptake apparatus. (uchicago.edu)
These bits of information were being ripped by 50 percent third party cohorts involving plus patients This is useful since great numbers of Genetic make-up repair hobby tend to be clas?sically associated with a improved diagnosis since they theoretically limit genomic discrepancies along with the progres?sion of the ailment. (cftrpathway.com)

and 3) the molecular basis of diseases that involve spectrin or any of its associated proteins, including contributions of the cortical cytoskeleton to the phenotypic alterations of malignant cells and the molecular pathology of acquired and inherited disorders involving this structure. (yale.edu)

The collective of an individual patient's tumor-specific alterations and mutations, the so-called mutanome, thus encodes patient-specific antigens that are different from "shared" antigens, which are expressed in tumors from multiple patients and are typically normal, non-mutated self-proteins. (biomedcentral.com)

Clinical and molecular predictors of fibrotic progression in essential thrombocythemia: A multicenter study involving 1607 patients. (cdc.gov)
The effects of ginseng oligosaccharides (GSOs) on neuronal oxidative injury induced by glutamate (GLU) and the molecular mechanisms involved were investigated. (sdbonline.org)
Dynamic molecular modeling of pathogenic mutations in the spectrin self-association domain Zhang Z, Weed S, Gallagher P, Morrow J . Dynamic molecular modeling of pathogenic mutations in the spectrin self-association domain. (yale.edu)

Intrafamilial cosegregation of the mutations with the hearing phenotype was confirmed in both families by the Sanger sequencing. (hindawi.com)

Interestingly, EPS of differentiated myotubes to induce Z-disc assembly and maturation resulted in increased levels of proteins involved in ATP synthesis, presumably to fulfill the higher energy demand of contracting myotubes. (omicsdi.org)

Spectrin alpha chain, erythrocyte is a protein that in humans is encoded by the SPTA1 gene. (wikipedia.org)

This domain, which resembles the structure of spectrin, is thought to bind heparan sulfate proteoglycans. (handwiki.org)

TMC1 is expressed in the mouse inner ear and has been suggested to involve in the functional maturation and survival of cochlear HCs [ 12 ]. (hindawi.com)

We propose a model in which a postsynaptic Spectrin-actin lattice acts as an organizing scaffold upon which pre- and postsynaptic development are arranged. (rupress.org)

The allelic frequencies of the HFE mutations (0.017 for C282Y mutation and 0.124 for H63D mutation) did not differ between patients with CRI and healthy controls. (scielo.org)
Frequencies of A(TA)7TAA, G71R, and G493R mutations of the UGT1A1 gene in the Malaysian population. (medscape.com)

Skeletal muscle growth and regeneration involves the activity of resident adult stem cells, namely satellite cells (SC). (sdbonline.org)

Spectrin, alpha 1 has been shown to interact with Abl gene. (wikipedia.org)
Actin binding domains present in duplicate at the N-termini of spectrin-like proteins (including dystrophin, alpha-actinin). (embl.de)
A number of actin-binding proteins, including spectrin, alpha-actinin and fimbrin, contain a 250 amino acid stretch called the actin binding domain (ABD). (embl.de)
Identification of the primary caspase 3 cleavage site in alpha II-spectrin during apoptosis Williams S, Smith A, Cianci C, Morrow J , Brown T. Identification of the primary caspase 3 cleavage site in alpha II-spectrin during apoptosis. (yale.edu)

Since it has been shown that only the isoforms with the extra WD-40 repeat region activate procaspase-9, we suggest that low procaspase-9 activation may also be involved in the deregulation of apoptosis and chemotherapy resistance in acute myeloid leukemia. (scielo.org)

Recent studies have revealed numerous mutations in the FLNC gene causing familial and sporadic myopathies and cardiomyopathies with marked clinical variability. (omicsdi.org)
Mutations in critical regions of amyloid precursor protein, including the region that generates amyloid beta (Aβ), cause familial susceptibility to Alzheimer's disease. (handwiki.org)

Involved in mitotic metaphase plate congression and mitotic spindle assembly. (nih.gov)

Spinocerebellar ataxia type 35 (SCA35) is a rare, autosomal dominant neurodegenerative disorder associated with mutations in TGM6 gene that encode the protein transglutaminase 6 (TG6). (ataxia.org)
Here, we report the first case of SYNE1 ataxia in Taiwan due to two novel truncating mutations. (e-jmd.org)
Here, we report the case of a patient who presented with progressive unsteady gait and was eventually diagnosed with SYNE1 ataxia, the first in Taiwan, due to two novel truncating mutations. (e-jmd.org)
Mutations in this gene cause a form of spinocerebellar ataxia, SCA5, that is characterized by neurodegeneration, progressive locomotor incoordination, dysarthria, and uncoordinated eye movements. (thermofisher.com)

Mutations in the synaptic nuclear envelope protein 1 ( SYNE1 ) gene are associated with substantial clinical heterogeneity. (e-jmd.org)

Calpain proteolysis of αII-spectrin in the normal adult human brain Huh G, Glantz S, Je S, Morrow J , Kim J. Calpain proteolysis of αII-spectrin in the normal adult human brain. (yale.edu)

The latter contains multiple phosphorylation sites for protein kinase C, the binding site for calmodulin, and is required for association with spectrin and actin. (utsouthwestern.edu)

The analysis of the effects of HFE mutations on iron metabolism and anemia with biochemical parameters was possible in 118 patients of this study (hemoglobin, hematocrit, ferritin levels, transferrin saturation, and serum iron). (scielo.org)
Nevertheless, the present data suggest that the H63D mutation may have an important function as a modulating factor of iron overload in these patients. (scielo.org)
For example, patients with mutations in CRB1 , LRAT , CEP290, or RPE65 may have VA better than 20/50 and may actually be diagnosed later in early childhood, and sometimes designated as having early-onset childhood retinal dystrophy or early-onset severe childhood retinal dystrophy, rather than LCA. (aao.org)
similarly,the aggravation rates of CBZ,OXC and PHT showed an increased tendency,but no significant difference compared with other AEDs.Conclusions VPA,TPM and CNZ are relatively recommended AEDs choices in patients with EFS + in early stage.The study suggests avoiding using the AEDs with sodium channel blocking in EFS +,especially in the patients with SCN1A mutations.The efficacy of LEV and PB in EFS + is uncertain. (zhangqiaokeyan.com)

They are involved in protein-protein interactions. (embl.de)

STAT3 mutations in 'gray-zone' cases of T-cell large granular lymphocytic leukemia associated with autoimmune rheumatic diseases. (cdc.gov)
Optimizing the therapeutic ratio for radiation therapy (RT) in head and neck squamous cell carcinoma (HNSCC) is uniquely challenging owing to high rates of early and late toxicity involving nearby organs at risk. (biomedcentral.com)

The role of UGT1A1*28 mutation in jaundiced infants with hypertrophic pyloric stenosis. (medscape.com)
Nesprin-1 is a member of the spectrin family and plays an essential role in nuclear-cytoskeletal connections [ 2 ]. (e-jmd.org)

Ultrastructural studies of oocytes and embryos derived from females flies carrying the grandchildless mutation in Drosophila subobscura. (uchicago.edu)

The following product was used in this experiment: Spectrin beta III (SPTBN2) Monoclonal Antibody (SPTBN2, 1584) from Thermo Fisher Scientific, catalog # 6712-MSM4-P1. (thermofisher.com)
The protein encoded by this gene (SPTBN2), is called spectrin beta non-erythrocytic 2 or beta-III spectrin. (thermofisher.com)
It is related to, but distinct from, the beta-II spectrin gene which is also known as spectrin beta non-erythrocytic 1 (SPTBN1). (thermofisher.com)

MYO15A mutations are responsible for congenital deafness DFNB3 in human and cochleovestibular dysfunction in shaker 2 mice which shows abnormally short stereocilia bundles and diminished staircase [ 20 , 21 ]. (hindawi.com)

Medical management of this patient will involve screening for a wider range of possible antigens and access to a blood bank with a sufficient number of available units for a clean transfusion. (passmed.uk)
Inexpensive and highly available DNA sequencing can revolutionize cancer immunotherapy by enabling highly personalized approaches involving the identification of new tumor-associated antigens. (biomedcentral.com)

In the last years several new mutations have been reported as associated to SCA35 but the mechanisms inducing neuronal degeneration are still uncovered. (ataxia.org)

A Feature Paper should be a substantial original Article that involves several techniques or approaches, provides an outlook for future research directions and describes possible research applications. (mdpi.com)

TACI Mutations in Primary Antibody Deficiencies: A Nationwide Study in Greece. (cdc.gov)

Mutations of FLNC result in cardiomyopathy and muscle weakness. (omicsdi.org)

The crystal structures of spectrin and Fyn SH3 domains as well as the solution structure of the Src SH3 domain show that these all have the same basic fold. (rcsb.org)
The comparison between the crystal structures of Fyn and spectrin SH3 domains shows that a conserved surface patch, consisting mainly of aromatic residues, is flanked by two hairpin-like loops (residues 94-104 and 114-118 in Fyn). (rcsb.org)

Drosophila bearing the ocelliless mutation underproduce two major chorion proteins both of which map near this gene. (uchicago.edu)

Older individual (30s) with RDH12 mutations and a macular atrophic lesion, as well as attenuated blood vessels and peripheral pigmentary changes. (aao.org)

We show that, in general, the prediction tools are able distinguish disease causing mutations from those mutations which are thought to have a neutral affect. (biomedcentral.com)

Anatomy7

Organisms2

Diseases5

Chemicals and Drugs22

Analytical, Diagnostic and Therapeutic Techniques and Equipment15

Phenomena and Processes43

Information Science3

Health Care2

Membrane17

Gene mutations1

Genes6

Skeleton3

Frameshift mutation1

Heterodimer1

Hereditary7

Heterozygous3

Recessive5

Novel mutations1

Ankyrin1

Repeats2

Tyrosine1

Exon2

Genetic6

Cytoskeleton1

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Molecular3

Phenotype1

Proteins involved1

Erythrocyte1

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Functional1

Scaffold1

Frequencies2

Skeletal1

Alpha4

Apoptosis1

Familial2

Assembly1

Ataxia4

Clinical1

Adult1

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Patients4

Protein-protein inte1

Cell2

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