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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

Cobertura temática

biologia

Ciencias biológicas

medicina-clinica

Medicina clínica

Tabla de contenidos

doi: 10.1016/j.ymgme.2018.04.011

Glycosaminoglycans analysis in blood and urine of patients with mucopolysaccharidosis

Shaukat A. Khan; Robert W. Mason; Roberto GiuglianiORCID; 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

doi: 10.1016/j.ymgme.2020.04.006

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

doi: 10.1016/j.ymgme.2020.06.003

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

doi: 10.1016/j.ymgme.2020.07.011

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

doi: 10.1016/j.ymgme.2021.12.014

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

doi: 10.1016/j.ymgme.2023.107608

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