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Genomes and Genes | G BachSummaryAffiliation: Hadassah University Hospital Country: Israel Publications
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Publications
Mucolipidosis type IV and the mucolipinsGideon Bach
Department of Human Genetics, Hadassah Hebrew University Hospital, Jerusalem 91120, Israel
Biochem Soc Trans 38:1432-5. 2010..Another open question is whether any one of the TRPMLs bears additional function in channel activity...- Prevention of lysosomal storage disorders in IsraelGideon Bach
Department of Human Genetics, Hadassah Hebrew University Hospital, Jerusalem 91120, Israel
Mol Genet Metab 90:353-7. 2007..Genetic counseling presents family planning options to high risk couples. These programs have resulted in a significant reduction in the birth of affected patients of the tested LSD a well as other recessive diseases in recent years... - The frequency of mucolipidosis type IV in the Ashkenazi Jewish population and the identification of 3 novel MCOLN1 mutationsGideon Bach
Department of Human Genetics, Hadassah Hebrew University Hospital, Jerusalem, Israel
Hum Mutat 26:591. 2005..15% and 21.85%, respectively. Three novel mutations were identified in non-Jewish MLIV patients, a missense mutation c.1207C>T, p.Arg403Cys; a 2bp deletion, c.302_303delTC; and a nonsense, c.235C>T, Gln79X... - Mucolipin 1: endocytosis and cation channel--a reviewGideon Bach
Department of Human Genetics, Hadassah Hebrew University Hospital, 91120 Jerusalem, Israel
Pflugers Arch 451:313-7. 2005..0. MLN1 was localized in cultured cells to late endosomes and lysosomes. The exact function of this cation channel in the late stages of lysosomal maintenance is currently under study... - Elevated lysosomal pH in Mucolipidosis type IV cellsG Bach
Department of Human Genetics, Hadassah University Hospital, Jerusalem, Israel
Clin Chim Acta 280:173-9. 1999.... - Mucolipidosis type IVG Bach
Department of Human Genetics, Hadassah Hebrew University Hospital, Jerusalem 91120, Israel
Mol Genet Metab 73:197-203. 2001..A population screening operation among the Ashkenazi population for the detection of heterozygotes has been started in Israel as a prevention program... - Tay-Sachs screening in the Jewish Ashkenazi population: DNA testing is the preferred procedureG Bach
Department of Human Genetics, Hadassah Hebrew University Hospital, Jerusalem 91120, Israel
Am J Med Genet 99:70-5. 2001..Our results strongly support the use of DNA testing alone as the most cost-effective and efficient approach to carrier screening for TSD in individuals of confirmed Ashkenazi Jewish ancestry... - Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish populationR Bargal
Department of Human Genetics, Hadassah University Hospital, Jerusalem, Israel
Hum Mutat 17:397-402. 2001..A preferred nucleotide numbering system for MCOLN1 mutations is presented and the issue of a screening program for the detection of high-risk families in the Jewish Ashkenazi population is discussed... - Identification of the gene causing mucolipidosis type IVR Bargal
Department of Human Genetics, Hadassah Hebrew University Hospital, Jerusalem
Nat Genet 26:118-23. 2000..Thus, positional cloning was an alternative to identify the MLIV gene. We report here the identification of a new gene in this human chromosomal region in which MLIV-specific mutations were identified... - Genomic organisation of the UDP-N-acetylglucosamine-1-phosphotransferase gamma subunit (GNPTAG) and its mutations in mucolipidosis IIIA Raas-Rothschild
Department of Human Genetics, Hadassah University Medical Center, Jerusalem, Israel
J Med Genet 41:e52. 2004 - Selection in favor of lysosomal storage disorders?J Zlotogora
Department of Human Genetics, Hadassah University Hospital, Jerusalem, Israel
Am J Hum Genet 42:271-3. 1988..The selection forces leading to this phenomenon have not been identified yet, and it has not yet been determined whether these forces are the same in the different communities presented here... - Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic areaG Bach
Department of Human Genetics, Hadassah Medical Center, Jerusalem
Am J Hum Genet 53:330-8. 1993..Since such clustering suggests a classic founder effect, the presence of three mutant alleles of the IDUA gene was unexpected... - Mutation analysis of Jewish Hunter patients in IsraelE Ben Simon-Schiff
Department of Human Genetics, Hadassah Hebrew University Hospital, Ein Kerem, Jerusalem, Israel
Hum Mutat 4:263-70. 1994..In two patients, we identified a deletion spanning exons V-VII. Three novel mutations were observed in different patients: L410P, 717de14, and 244de13. In addition, the silent mutation (562 C-->T) was observed in one patient... - Mucolipidosis IV: novel mutation and diverse ultrastructural spectrum in the skinR Bargal
Department of Human Genetics, Hadassah University Hospital Jerusalem, Israel
Neuropediatrics 33:199-202. 2002..Mutation analysis revealed a homozygous novel mutation of a 34 bp deletion and 3 bp insertion in exon 2 of the MCOLN1 gene, perhaps the reason for this unusual clinical and morphological phenotype... - Late infantile metachromatic leukodystrophy in IsraelJ Zlotogora
Department of Human Genetics, Hadassah Medical Center, Hebrew University Jerusalem, Israel
Biomed Pharmacother 48:347-50. 1994..Knowledge of the different mutations causing MLD in these defined populations will allow a carrier screening program to be carried out and prevent the birth of additional affected children... - When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patientsRuth Bargal
Department of Human Genetics, Hadassah Hebrew University Medical Center, Jerusalem, Israel
Mol Genet Metab 88:359-63. 2006..We suggest that the diseases due to mutations in GNPTA represent a clinical continuum between ML III and ML II, and the classification of these diseases should be based on the age of onset, clinical symptoms, and severity... - TRPML and lysosomal functionDavid A Zeevi
Department of Human Genetics, Hadassah Hebrew University Hospital, Jerusalem, Israel
Biochim Biophys Acta 1772:851-8. 2007..Mutations in the gene coding for TRPML1 result in a lysosomal storage disorder (LSD). This review summarizes the current knowledge related to this protein and the rest of the mucolipin family... - Mucolipidosis type IV: the effect of increased lysosomal pH on the abnormal lysosomal storageAviram Kogot-Levin
Department of Human Genetics, Hadassah University Hospital, Jerusalem, Israel
Pediatr Res 65:686-90. 2009..On the other hand, transfection with the normal MCOLN1 cDNA (the gene coding for TRPML1) resulted in the removal of almost all the storage materials... - A potentially dynamic lysosomal role for the endogenous TRPML proteinsDavid A Zeevi
Department of Human Genetics, Hadassah Hebrew University Hospital, Jerusalem, Israel
J Pathol 219:153-62. 2009..Given that depletion of TRPML2/3 led to lysosomal storage typical to an LSD, we propose that depletion of these proteins might also underlie novel LSD pathologies not described hitherto... - Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish populationJosef Ekstein
Dor Yeshorim, The Committee for the Prevention of Jewish Genetic Diseases, Brooklyn, New York, USA
Am J Med Genet A 129:162-4. 2004..We observed no carriers of the Q347X mutation. Among the 30 GSDIa affected AJ subjects, all were homozygous for R83C. These results indicate that R83C is the only prevalent mutation for GSDIa in the Ashkenazi population... - The possibility of a selection process in the Ashkenazi Jewish populationJoel Zlotogora
Am J Hum Genet 73:438-40; author reply 440-1. 2003