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Molecular Genetics and Metabolism
Resumen/Descripción – provisto por la editorial en inglés
Molecular Genetics and Metabolism is a contribution to the understanding of the metabolic basis of disease. The journal publishes articles describing investigations that use the tools of biochemistry and molecular biology for studies of normal and diseased states. In addition to original research articles, occasional minireviews reporting timely advances as well as brief communications and letters to the editor are considered.Research Areas include:
• Inherited Metabolic Diseases:
- Biochemical studies of primary enzyme defects
- Molecular genetic analyses of mutations
- Pathogenesis of these disorders, including not only primary but also secondary metabolic alterations
• Systems Biology:
- Functional integration of biochemical network modules
- Moonlighting functions of proteins
• Intercellular and Intracellular Metabolic Relationships:
- Biochemical interactions between cells
- Functional roles of and interactions between subcellular compartments and distinct regions within these cellular spaces, termed microcompartments
- Metabolic relations between individual enzymes and pathways
• Cellular Catalysts:
- Protein and nonprotein catalyst in normal and deranged cellular metabolism
- Relationships between the structure and function of catalytic molecules
- Interaction of these catalysts with other cellular components
• Disease Pathogenesis:
- Underlying mechanisms of inherited and acquired diseases
- Relationships between genotype and phenotype at the biochemical and molecular levels
• Treatment:
- Drug, protein and dietary interventions
- Transplantation and gene therapy
- Multicenter clinical trials
Advances in nanomedicine, nanopediatrics and nanotechnology are also welcome.
Palabras clave – provistas por la editorial
No disponibles.
Disponibilidad
| Institución detectada | Período | Navegá | Descargá | Solicitá |
|---|---|---|---|---|
| No detectada | desde ene. 1998 / hasta dic. 2023 | ScienceDirect |
Información
Tipo de recurso:
revistas
ISSN impreso
1096-7192
ISSN electrónico
1096-7206
Editor responsable
Elsevier
País de edición
Estados Unidos
Fecha de publicación
1998-
Cobertura temática
Tabla de contenidos
Impact of sphingolipids on osteoblast and osteoclast activity in Gaucher disease
Matthew C. Reed; Capucine Schiffer; Simon Heales; Atul B. Mehta; Derralynn A. Hughes
Pp. 278-286
Glycosaminoglycans analysis in blood and urine of patients with mucopolysaccharidosis
Shaukat A. Khan; Robert W. Mason; Roberto Giugliani
; Kenji Orii; Toshiyuki Fukao; Yasuyuki Suzuki; Seiji Yamaguchi; Hironori Kobayashi; Tadao Orii; Shunji Tomatsu
Palabras clave: Genetics; Biochemistry; Molecular Biology; Endocrinology, Diabetes and Metabolism; Endocrinology.
Pp. 44-52
A comprehensive testing algorithm for the diagnosis of Fabry disease in males and females
Ashlee R. Stiles; Haoyue Zhang; Jian Dai; Patricia McCaw; James Beasley; Catherine Rehder; Dwight D. Koeberl; Marie McDonald; Deeksha S. Bali; Sarah P. Young
Palabras clave: Genetics; Biochemistry; Molecular Biology; Endocrinology, Diabetes and Metabolism; Endocrinology.
Pp. 209-214
Gaucher disease-associated alterations in mesenchymal stem cells reduce osteogenesis and favour adipogenesis processes with concomitant increased osteoclastogenesis
A. Crivaro; C. Bondar; J.M. Mucci; M. Ormazabal; R.A. Feldman; M.V. Delpino; P.A. Rozenfeld
Palabras clave: Genetics; Biochemistry; Molecular Biology; Endocrinology, Diabetes and Metabolism; Endocrinology.
Pp. 274-282
Unraveling the mystery of Gaucher bone density pathophysiology
P.A. Rozenfeld; A.N. Crivaro; M. Ormazabal; J.M. Mucci; C. Bondar; M.V. Delpino
Palabras clave: Genetics; Biochemistry; Molecular Biology; Endocrinology, Diabetes and Metabolism; Endocrinology.
Pp. 76-85
Stroke and stroke-like episodes in inborn errors of metabolism: Pathophysiological and clinical implications
Mario Mastrangelo; Giacomina Ricciardi; Laura Giordo; Manuela De Michele; Danilo Toni; Vincenzo Leuzzi
Palabras clave: Endocrinology; Genetics; Molecular Biology; Biochemistry; Endocrinology, Diabetes and Metabolism.
Pp. 3-14
Novel variants in genes related to vesicle-mediated-transport modify Parkinson's disease risk
Orly Goldstein; Mali Gana-Weisz; Sandro Banfi; Vincenzo Nigro; Anat Bar-Shira; Avner Thaler; Tanya Gurevich; Anat Mirelman; Nir Giladi; Roy N. Alcalay; Avi Orr-Urtreger
Palabras clave: Endocrinology; Genetics; Molecular Biology; Biochemistry; Endocrinology, Diabetes and Metabolism.
Pp. 107608