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Genetic diseases-Laminopathies

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1 Lamins are rapamycin targets that impact human longevity: a study in centenarians Lamins are rapamycin targets that impact human longevity: a study in centenarians
2 Different prelamin A forms accumulate in human fibroblasts: a study in experimental models and progeria Different prelamin A forms accumulate in human fibroblasts: a study in experimental models and progeria
3 Prelamin A processing and functional effects in restrictive dermopathy Prelamin A processing and functional effects in restrictive dermopathy
4 Investigation of splicing changes and post-translational processing of LMNA in sporadic inclusion body myositis Investigation of splicing changes and post-translational processing of LMNA in sporadic inclusion body myositis
5 Prelamin A-mediated recruitment of SUN1 to the nuclear envelope directs nuclear positioning in human muscle Prelamin A-mediated recruitment of SUN1 to the nuclear envelope directs nuclear positioning in human muscle
6 N6‐isopentenyladenosine improves nuclear shape in fibroblasts from humans with progeroid syndromes by inhibiting the farnesylation of prelamin A N6‐isopentenyladenosine improves nuclear shape in fibroblasts from humans with progeroid syndromes by inhibiting the farnesylation of prelamin A
7 Partial lipodystrophy with severe insulin resistance and adult progeria Werner syndrome Partial lipodystrophy with severe insulin resistance and adult progeria Werner syndrome
8 Progeroid laminopathy with restrictive dermopathy-like features caused by an isodisomic LMNA mutation Progeroid laminopathy with restrictive dermopathy-like features caused by an isodisomic LMNA mutation
9 The protein kinase Akt/PKB regulates both prelamin A degradation and Lmna gene expression The protein kinase Akt/PKB regulates both prelamin A degradation and Lmna gene expression
10 Altered chromatin organization and SUN2 localization in mandibuloacral dysplasia are rescued by drug treatment Altered chromatin organization and SUN2 localization in mandibuloacral dysplasia are rescued by drug treatment
11 The mitochondrial transporter of ascorbic acid functions with high affinity in the presence of low millimolar concentrations of sodium and in the absence of calcium and magnesium The mitochondrial transporter of ascorbic acid functions with high affinity in the presence of low millimolar concentrations of sodium and in the absence of calcium and magnesium
12 Autophagic degradation of farnesylated prelamin A as a therapeutic approach to lamin-linked progeria Autophagic degradation of farnesylated prelamin A as a therapeutic approach to lamin-linked progeria
13 High prevalence of laminopathies among patients with metabolic syndrome High prevalence of laminopathies among patients with metabolic syndrome
14 Mitotic Defects Lead to Pervasive Aneuploidy and Accompany Loss of RB1 Activity in Mouse LmnaDhe Dermal Fibroblasts Mitotic Defects Lead to Pervasive Aneuploidy and Accompany Loss of RB1 Activity in Mouse LmnaDhe Dermal Fibroblasts
15 Reduced adipogenic gene expression in fibroblasts from a patient with type 2 congenital generalized lipodystrophy Reduced adipogenic gene expression in fibroblasts from a patient with type 2 congenital generalized lipodystrophy
16 Skeletal Phenotype Of Mandibuloacral Dysplasia Associated With Mutations In ZMPSTE24 Skeletal Phenotype Of Mandibuloacral Dysplasia Associated With Mutations In ZMPSTE24
17 Induced Pluripotent Stem Cells Reveal Functional Differences Between Drugs Currently Investigated in Patients With Hutchinson-Gilford Progeria Syndrome Induced Pluripotent Stem Cells Reveal Functional Differences Between Drugs Currently Investigated in Patients With Hutchinson-Gilford Progeria Syndrome
18 Mandibuloacral dysplasia type A in childhood Mandibuloacral dysplasia type A in childhood
19 All-trans retinoic acid and rapamycin normalize Hutchinson Gilford progeria fibroblast phenotype All-trans retinoic acid and rapamycin normalize Hutchinson Gilford progeria fibroblast phenotype
20 141st ENMC International Workshop Inaugural Meeting of the EURO-Laminopathies Project Nuclear Envelope-linked Rare Human Diseases: From Molecular Pathophysiology towards Clinical Applications 10–12 March 2006, Naarden, The Netherlands 141st ENMC International Workshop Inaugural Meeting of the EURO-Laminopathies Project Nuclear Envelope-linked Rare Human Diseases: From Molecular Pathophysiology towards Clinical Applications 10–12 March 2006, Naarden, The Netherlands
21 Lamin A, An Activator of Longevity/Anti-Aging SIRT1 Protein Lamin A, An Activator of Longevity/Anti-Aging SIRT1 Protein
22 Drug screening on Hutchinson Gilford progeria pluripotent stem cells reveals aminopyrimidines as new modulators of farnesylation Drug screening on Hutchinson Gilford progeria pluripotent stem cells reveals aminopyrimidines as new modulators of farnesylation
23 An overview of new translational, clinical and therapeutic perspectives in laminopathies and other nuclear envelope-related diseases An overview of new translational, clinical and therapeutic perspectives in laminopathies and other nuclear envelope-related diseases
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