Stella Mitrani-Rosenbaum

Stella Mitrani-Rosenbaum
Hadassah Medical Center | hadassah · Goldyne Savad Institute of Gene Therapy

PhD

About

109
Publications
4,727
Reads
How we measure 'reads'
A 'read' is counted each time someone views a publication summary (such as the title, abstract, and list of authors), clicks on a figure, or views or downloads the full-text. Learn more
2,605
Citations
Introduction
Stella Mitrani-Rosenbaum currently works at the Goldyne Savad Institute of Gene Therapy, Hadassah Medical Center. Stella does research in Cell Biology, Genetics and Molecular Biology. Their current project is 'GNE FUNCTIONS IN MUSCLE'.

Publications

Publications (109)
Article
Full-text available
We report the long-term response to bariatric surgery in a singular family of four adolescents with severe obesity (41–82 kg/m2), homozygous for the C271R loss-of-function mutation in the melanocortin 4 receptor (MC4R), and three adults heterozygous for the same mutation. All patients had similar sociodemographic backgrounds and were followed for a...
Article
Full-text available
UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) is the gene mutated in GNE myopathy. In an attempt to elucidate GNE functions that could account for the muscle pathophysiology of this disorder, the interaction of GNE with α-actinins has been investigated. Surface plasmon resonance and microscale thermophoresis analysis revealed...
Article
Full-text available
GNE myopathy (previous names: HIBM, DMRV, IBM2) is a unique distal myopathy with quadriceps sparing. This recessively inherited myopathy has been diagnosed in various regions of the world with more than 150 disease-causing mutations already identified. Several of those are proven or suspected to be founder mutations in certain regional clusters and...
Article
Full-text available
CTG repeat expansion in DMPK, the cause of myotonic dystrophy type 1 (DM1), frequently results in hypermethylation and reduced SIX5 expression. The contribution of hypermethylation to disease pathogenesis and the precise mechanism by which SIX5 expression is reduced are unknown. Using 14 different DM1-affected human embryonic stem cell (hESC) lines...
Article
Full-text available
Inflammation and fibrosis are well-defined mechanisms involved in the pathogenesis of the incurable Laminin α2-deficient congenital muscular dystrophy (MDC1A), while apoptosis mechanism is barely discussed. Our previous study showed treatment with Losartan, an angiotensin II type I receptor antagonist, improved muscle strength and reduced fibrosis...
Conference Paper
GNE Myopathy (formerly designated HIBM/DMRV) is a rare neuromuscular recessive disorder caused by missense mutations in GNE, the key enzyme of sialic acid biosynthesis. In order to unravel potential novel functions for GNE, we have analyzed interactions of GNE with other proteins by diverse methods. In these studies we have used bimolecular fluores...
Conference Paper
GNE Myopathy is a unique neuromuscular disorder characterized by adult onset and slowly progressive distal and proximal muscle and a typical histology including rimmed vacuoles and filamentous inclusions. The disease is caused by recessive mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene (GNE), encoding the key e...
Conference Paper
Merosin deficient congenital muscular dystrophy type 1A (MDC1A) is a devastating incurable disorder of childhood. We previously studied the effect of Glatiramer acetate (GA), an anti-inflammatory agent and S- farnesylthiosalicilate acid (FTS), an anti-fibrotic agent, as a single agent in the dy2J/dy2J mouse model of MDC1A. Each of the two medicatio...
Article
Full-text available
GNE Myopathy is a rare recessively inherited neuromuscular disorder caused by mutations in the GNE gene, which codes for the key enzyme in the metabolic pathway of sialic acid synthesis. The process by which GNE mutations lead to myopathy is not well understood. By in situ hybridization and gne promoter-driven fluorescent transgenic fish generation...
Article
Full-text available
GNE myopathy is a rare neuromuscular autosomal recessive disease, resulting from mutations in the gene UDP N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE). The most frequent mutation is the single homozygous missense mutation, M712T-the Middle Eastern mutation-located ten amino acids before the end of the protein. We have used an a...
Article
Congenital Muscular Dystrophy (CMD) is a group of genetic disorders characterized by progressive loss of muscle strength and integrity. Merosin deficient congenital muscular dystrophy type 1A (MDC1A) is a common form of this disorder. Children affected with MDC1A suffer from early onset severe hypotonia and weakness with significant motor milestone...
Article
The dy2J/dy2J mouse model of lamininα2-deficient congenital muscular dystrophy (MDC1A) has prominent peripheral neuropathy with slowed conduction. The conduction slowing may be due to reduced myelinated axon number, diameter, and atypical Schwann cell ensheathement/amyelination with aberrant basal lamina, nodal gap shortening, and decreased axon me...
Article
GNE Myopathy (formerly designated HIBM/DMRV) is a rare neuromuscular recessive disorder caused by missense mutations in GNE, the key enzyme of sialic acid biosynthesis. To date, over 60 different mutations in GNE have been reported to cause the disease worldwide, but a single homozygous missense mutation M712T, is common in the Middle East. The mec...
Article
GNE Myopathy is a rare neuromuscular worldwide autosomal recessive disease, which is very common among Persian Jews. The disorder results from mutations in the gene UDP N-Acetylglucosamine 2-epimerase/N-Acetylmannosamine kinase (GNE). To date, over 60 different mutations in GNE have been reported to cause the disease worldwide, but a single homozyg...
Article
N-linked glycans harbored on glycoproteins profoundly affect the character of proteins by altering their structure or capacity to bind to other molecules. Specific knowledge of the role of N-glycans in these changes is limited due to difficulties in identifying precise carbohydrate structures on a given glycoprotein, which arises from the large amo...
Data
Functional cardiac cells in cultures of normal (N ES) and GNE KO ES (KO ES) cultures at day 5+30 post differentiation. Normal cells contract at the same pace than at day 5+12, in contrast GNE KO cells contractions are much slower. (MPG)
Data
Functional cardiac cells in cultures of normal (N ES) and GNE KO ES (KO ES) cells at day 5+12 post differentiation. Both cell types contract at similar pace. (MPG)
Data
Primer sequences used for analysis of expression markers. (DOC)
Data
Western analysis of two matched HIBM/ control muscle culture pairs with antibodies for representative proteins. (TIF)
Data
Functional annotations of the differentially expressed proteins in HIBM versus controls as analyzed by iTRAQ. (TIF)
Data
MS/MS identification of protein biopsies by iTRAQ. (XLS)
Data
Functional annotations of the differentially expressed proteins in HIBM versus controls as analyzed by 2-DE of muscle cultures. (TIF)
Data
Histological sections of biopsies analyzed by 2D gels and iTraq. a–c: HIBM muscle samples; d–f, normal controls. Arrows point to degenerating fibers with rimmed vacuoles, showing a similar stage of typical HIBM pathology in all 3 affected samples; a) tibialis anterior; b–f, deltoid. (TIF)
Data
Functional annotations of the differentially expressed proteins in HIBM versus controls as analyzed by 2-DE of biopsies. (TIF)
Data
MS/MS identification of protein biopsies by 2DE. (XLS)
Article
Proceedings: AACR 101st Annual Meeting 2010‐‐ Apr 17‐21, 2010; Washington, DC Introduction: MicroRNAs (miRNAs) are a large class of single strand RNA molecules consistent of 18-25 nucleotides, involved in post transcriptional gene silencing. miRNAs show tissue-specific expression and play an important role in carcinogenesis. The aim of the presen...
Article
Hereditary inclusion body myopathy (HIBM) is a unique muscular disorder caused by mutations in the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene. GNE encodes a bi-functional enzyme acting in the biosynthetic pathway of sialic acid. Since the underlying myopathological mechanism leading to the disease phenotype is poorly...
Article
Mutations in GNE encoding UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) cause hereditary inclusion body myopathy (HIBM). To define the role of GNE mutations in HIBM pathogenesis, GNE protein expression was analyzed. GNE protein is expressed at equal levels in HIBM patients and normal control subjects. Immunofluorescence detec...
Article
Full-text available
The presence of metastases in lymph nodes is the most powerful prognostic factor in breast cancer patients. Routine histological examination of lymph nodes has limited sensitivity for the detection of breast cancer metastases. The aim of the present study was to develop a multimarker reverse transcriptase-polymerase chain reaction (RT-PCR) assay fo...
Article
PCR detection of human cytomegalovirus (HCMV) DNA in amniotic fluid (AF) is the most sensitive tool for diagnosis of fetal infection, but has sub-optimal sensitivity. It has been suggested that inhibition by AF reduces the sensitivity of this assay, however this assumption has never been thoroughly studied. Several PCR assays have been shown to imp...
Article
Recessively inherited hereditary inclusion body myopathy (HIBM) with quadriceps sparing was initially described only in Jews originating from the region of Persia. The recent identification of the gene responsible for this myopathy and the common "Persian Jewish mutation" (M712T) enabled the re-evaluation of atypical phenotypes and the epidemiology...
Article
Full-text available
The human RECK gene, mapped at 9p13-->p12, is known as a tumor suppressor gene and as a key regulator of extracellular matrix integrity and angiogenesis. We have established the entire genomic structure of this gene, which spans more than 87 kb and consists of 21 exons and 20 introns, and identified thirteen single nucleotide polymorphisms (SNPs)....
Article
To present the first genetically proven identity of quintuplets in an IVF treatment cycle after transferring only two embryos. Case report. IVF unit and obstetrics department of university-affiliated general hospital. Twenty-five-year-old patient undergoing IVF treatment for unexplained infertility. In vitro fertilization with intracytoplasmic sper...
Article
Full-text available
Hereditary inclusion body myopathy (HIBM; OMIM 600737) is a unique group of neuromuscular disorders characterized by adult onset, slowly progressive distal and proximal weakness and a typical muscle pathology including rimmed vacuoles and filamentous inclusions. The autosomal recessive form described in Jews of Persian descent is the HIBM prototype...
Article
Full-text available
Hereditary inclusion body myopathy (HIBM) is a group of neuromuscular disorders characterised by adult-onset, slowly progressive distal and proximal muscle weakness and typical muscle pathology. Previously, we have mapped the gene responsible for a recessive form of HIBM to chromosome 9p1 and narrowed the interval to one single YAC clone of 1 Mb in...
Article
Full-text available
The cluster in Jews of Libyan origin of limb-girdle muscular dystrophy type 2B due to a dysferlin 1624delG mutation is described. The carrier frequency of this mutation is calculated to be approximately 10% in this population, in which the disease prevalence is at least 1 per 1300 adults. Twenty-nine patients from 12 families were all homozygous fo...
Article
Mutations in dysferlin were recently described in patients with Miyoshi myopathy, a disorder that preferentially affects the distal musculature, and in patients with Limb-Girdle Muscular Dystrophy 2B, a disorder that affects the proximal musculature. Despite the phenotypic differences, the types of mutations associated with Miyoshi myopathy and Lim...
Article
Human papilloma virus 16 (HPV16) is considered to be the causative agent for cervical cancer, which ranks second to breast cancer in women's malignancies. In an attempt to develop drugs that inhibit the malignant transformation of HPV16-immortalized epithelial cells, we examined the effect of tyrphostins on such cells. We examined the effect of tyr...
Article
The gene responsible for a recessive form of hereditary inclusion body myopathy (HIBM) has previously been mapped to a 10-cM interval on chromosome 9p1-q1. We report the results of further mapping studies using two-point linkage analyses and linkage disequilibrium analyses with 20 HIBM families. We demonstrate that the HIBM gene (HGMW-approved symb...
Article
We review the current knowledge about the genetic susceptibility to develop inflammatory inclusion body myositis, especially in relation to the increased presence of the HLA DR3 allele in patients with familial and sporadic forms, indicating an autoimmune predisposition. The main focus of the review is the clinical and genetic presentations of the...
Article
Full-text available
The study was conducted to report on the use of molecular biology methods and pregnancy outcome in women sensitized to either Rhesus D (RhD) or Kell 1 (K1) antigens. Paternal RhD genotype was determined by DNA amplification of an RhD-specific sequence from single sperm cells. Paternal Kell phenotype was determined by serologic assays using peripher...
Article
There has been a controversy as to the origin of lupus miliaris disseminatus faciei (LMDF). It was originally thought to be associated with tuberculosis, due to its histopathological similarity. Recently, this association has been doubted, although there remain reported cases of LMDF associated with Mycobacterium tuberculosis. Three patients with t...
Article
Full-text available
Human papilloma virus 16 (HPV 16) is associated with cervical cancer and is therefore considered a major health risk for women. Immortalization of keratinocytes induced by HPV infection is largely due to the binding of p53 and Rb by the the viral oncoproteins E6 and E7, respectively, and is driven to a large extent by a transforming growth factor a...
Article
Hereditary inclusion body myopathies are a clinically heterogeneous group of disorders characterized by adult-onset, slowly progressive muscle weakness and typical histopathology: rimmed vacuoles and filamentous inclusions. The disorders are usually inherited as an autosomal recessive trait. The gene responsible for the disease found in Iranian Jew...
Article
An Rh-negative woman with preexisting anti-D antibodies may affect some or all subsequent fetuses, depending on the genotype of her Rh-positive partner. Currently, a reliable technique for an absolute determination of RhD genotype is not available. This study was initiated to develop an accurate method for RhD genotyping in men. RhD genotype was de...
Article
Full-text available
A genetic assay by single blastomere analysis was developed for rhesus (RhD) blood group typing of early cleavage stage embryos. The method, which is based on the simultaneous amplification of an RhD-specific sequence and an internal control in single cells, was applied for the selective transfer of RhD-negative embryos in a family of an RhD sensit...