Lista de obras - Elena I Rugarli - Dominio Público Uruguay

A cryptic promoter in the first exon of the SPG4 gene directs the synthesis of the 60-kDa spastin isoform

artículo científico publicado en 2008

A gene from the Xp22.3 region shares homology with voltage-gated chloride channels

artículo científico publicado en 1994

A new region of conservation is defined between human and mouse X chromosomes.

artículo científico publicado en 1996

A novel human serine-threonine phosphatase related to the Drosophila retinal degeneration C (rdgC) gene is selectively expressed in sensory neurons of neural crest origin

artículo científico publicado en 1997

AFG3L2 supports mitochondrial protein synthesis and Purkinje cell survival

artículo científico publicado en 2012

Alternative splicing of Spg7, a gene involved in hereditary spastic paraplegia, encodes a variant of paraplegin targeted to the endoplasmic reticulum

artículo científico publicado en 2012

Astrocyte-specific deletion of the mitochondrial m-AAA protease reveals glial contribution to neurodegeneration

artículo científico publicado en 2019

BID-dependent release of mitochondrial SMAC dampens XIAP-mediated immunity against Shigella

artículo científico publicado en 2014

Beta-nerve growth factor (beta-NGF) mRNA expression in the parkinsonian adrenal gland

artículo científico publicado en 1991

CLUH controls astrin-1 expression to couple mitochondrial metabolism to cell cycle progression

artículo científico publicado en 2022

CLUH granules coordinate translation of mitochondrial proteins with mTORC1 signaling and mitophagy

artículo científico publicado en 2020

CLUH regulates mitochondrial biogenesis by binding mRNAs of nuclear-encoded mitochondrial proteins

artículo científico publicado en 2014

CLUH regulates mitochondrial metabolism by controlling translation and decay of target mRNAs

artículo científico publicado en 2017

Characterization of a human and murine gene (CLCN3) sharing similarities to voltage-gated chloride channels and to a yeast integral membrane protein

artículo científico publicado en 1995

Cloning of a human homologue of the Xenopus laevis APX gene from the ocular albinism type 1 critical region

artículo científico publicado en 1995

Correction: Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases

article published in 2013

DNAJC19, a mitochondrial cochaperone associated with cardiomyopathy, forms a complex with prohibitins to regulate cardiolipin remodeling

artículo científico publicado en 2014

Detection of beta-nerve growth factor mRNA in the human fetal brain.

artículo científico publicado en 1990

Different chromosomal localization of the Clcn4 gene in Mus spretus and C57BL/6J mice.

artículo científico publicado en 1995

Embryonic expression pattern of the Drosophila Kallmann syndrome gene kal-1.

artículo científico publicado en 2004

Emerging roles of mitochondrial proteases in neurodegeneration

artículo científico publicado en 2009

Evidence of evolutionary up-regulation of the single active X chromosome in mammals based on Clc 4 expression levels in Mus spretus and Mus musculus ⬇️

artículo científico publicado el 19 de agosto de 1997

Expression of the Kallmann syndrome gene in human fetal brain and in the manipulated chick embryo.

artículo científico publicado en 1994

Expression pattern of the Kallmann syndrome gene in the olfactory system suggests a role in neuronal targeting

artículo científico publicado en 1993

Functional dissection of the Drosophila Kallmann's syndrome protein DmKal-1.

artículo científico publicado en 2006

Genetic interaction between the m-AAA protease isoenzymes reveals novel roles in cerebellar degeneration

artículo científico publicado en 2009

Hereditary spastic paraplegia: clinical genetic study of 15 families

artículo científico publicado en 2004

Human fetal brain beta-nerve growth factor cDNA: molecular cloning of 5' and 3' untranslated regions

artículo científico publicado en 1991

Intramuscular viral delivery of paraplegin rescues peripheral axonopathy in a model of hereditary spastic paraplegia

artículo científico publicado en 2005

Intramuscular viral delivery of paraplegin rescues peripheral axonopathy in amodel of hereditary spastic paraplegia.

artículo científico publicado en 2014

Is mitochondrial free radical theory of aging getting old?

artículo científico publicado en 2015

Kallmann syndrome and the link between olfactory and reproductive development.

artículo científico publicado en 1999

Loss of OMA1 delays neurodegeneration by preventing stress-induced OPA1 processing in mitochondria

artículo científico publicado en 2016

Loss of prohibitin membrane scaffolds impairs mitochondrial architecture and leads to tau hyperphosphorylation and neurodegeneration

artículo científico publicado en 2012

Loss of the m-AAA protease subunit AFG₃L₂ causes mitochondrial transport defects and tau hyperphosphorylation

artículo científico publicado en 2014

Maintained cellular function of adrenal medullary cells in parkinsonian dysautonomia

artículo científico publicado el 1 de julio de 1991

Mapping of the murine Tbl1 gene reveals a new rearrangement between mouse and human X Chromosomes

article

Microtubule-dependent and independent roles of spastin in lipid droplet dispersion and biogenesis

scientific article published on 22 April 2020

Mitochondrial quality control: a matter of life and death for neurons

artículo científico

Molecular basis of inherited spastic paraplegias

artículo científico publicado en 2001

OPA1 processing reconstituted in yeast depends on the subunit composition of the m-AAA protease in mitochondria

artículo científico publicado en 2007

Partial deletion of AFG3L2 causing spinocerebellar ataxia type 28.

artículo científico publicado en 2014

Pleiotropic effects of spastin on neurite growth depending on expression levels

artículo científico publicado en 2009

Senataxin modulates neurite growth through fibroblast growth factor 8 signalling

artículo científico publicado en 2011

Spastin binds to lipid droplets and affects lipid metabolism

artículo científico publicado en 2015

Spastin interacts with the centrosomal protein NA14, and is enriched in the spindle pole, the midbody and the distal axon

artículo científico publicado en 2004

Spastin subcellular localization is regulated through usage of different translation start sites and active export from the nucleus

artículo científico publicado en 2005

Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics

artículo científico publicado en 2002

The Kallmann syndrome gene homolog in C. elegans is involved in epidermal morphogenesis and neurite branching

artículo científico publicado en 2002

The Mitochondrial m-AAA Protease Prevents Demyelination and Hair Greying.

artículo científico publicado en 2016

The breakpoint identified in a balanced de novo translocation t(7;9)(p14.1;q31.3) disrupts the A-kinase (PRKA) anchor protein 2 gene (AKAP2) on chromosome 9 in a patient with Kallmann syndrome and bone anomalies.

artículo científico publicado en 2007

The i-AAA protease YME1L and OMA1 cleave OPA1 to balance mitochondrial fusion and fission

artículo científico publicado en 2014

The m-AAA Protease Associated with Neurodegeneration Limits MCU Activity in Mitochondria

scientific journal article

The m-AAA protease defective in hereditary spastic paraplegia controls ribosome assembly in mitochondria

artículo científico publicado en 2005

The mouse Mid1 gene: implications for the pathogenesis of Opitz syndrome and the evolution of the mammalian pseudoautosomal region

artículo científico publicado en 1998

The product of X-linked Kallmann's syndrome gene (KAL1) affects the migratory activity of gonadotropin-releasing hormone (GnRH)-producing neurons.

artículo científico publicado en 2004

The role of ZFYVE27/protrudin in hereditary spastic paraplegia

artículo científico publicado en 2008

Tissue-specific loss of DARS2 activates stress responses independently of respiratory chain deficiency in the heart

artículo científico publicado en 2014

Translating m-AAA protease function in mitochondria to hereditary spastic paraplegia

artículo científico publicado en 2006

UMODL1/Olfactorin is an extracellular membrane-bound molecule with a restricted spatial expression in olfactory and vomeronasal neurons

scientific journal article

Variable and tissue-specific subunit composition of mitochondrial m-AAA protease complexes linked to hereditary spastic paraplegia

artículo científico publicado en 2006

Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases

artículo científico publicado en 2011

X-linked Kallmann syndrome. A neuronal targeting defect in the olfactory system?

artículo científico publicado en 1993

Lista de obras de Elena I Rugarli

A cryptic promoter in the first exon of the SPG4 gene directs the synthesis of the 60-kDa spastin isoform

A gene from the Xp22.3 region shares homology with voltage-gated chloride channels

A new region of conservation is defined between human and mouse X chromosomes.

A novel human serine-threonine phosphatase related to the Drosophila retinal degeneration C (rdgC) gene is selectively expressed in sensory neurons of neural crest origin

AFG3L2 supports mitochondrial protein synthesis and Purkinje cell survival

Alternative splicing of Spg7, a gene involved in hereditary spastic paraplegia, encodes a variant of paraplegin targeted to the endoplasmic reticulum

Astrocyte-specific deletion of the mitochondrial m-AAA protease reveals glial contribution to neurodegeneration

BID-dependent release of mitochondrial SMAC dampens XIAP-mediated immunity against Shigella

Beta-nerve growth factor (beta-NGF) mRNA expression in the parkinsonian adrenal gland

CLUH controls astrin-1 expression to couple mitochondrial metabolism to cell cycle progression

CLUH granules coordinate translation of mitochondrial proteins with mTORC1 signaling and mitophagy

CLUH regulates mitochondrial biogenesis by binding mRNAs of nuclear-encoded mitochondrial proteins

CLUH regulates mitochondrial metabolism by controlling translation and decay of target mRNAs

Characterization of a human and murine gene (CLCN3) sharing similarities to voltage-gated chloride channels and to a yeast integral membrane protein

Cloning of a human homologue of the Xenopus laevis APX gene from the ocular albinism type 1 critical region

Correction: Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases

DNAJC19, a mitochondrial cochaperone associated with cardiomyopathy, forms a complex with prohibitins to regulate cardiolipin remodeling

Detection of beta-nerve growth factor mRNA in the human fetal brain.

Different chromosomal localization of the Clcn4 gene in Mus spretus and C57BL/6J mice.

Embryonic expression pattern of the Drosophila Kallmann syndrome gene kal-1.

Emerging roles of mitochondrial proteases in neurodegeneration

Evidence of evolutionary up-regulation of the single active X chromosome in mammals based on Clc 4 expression levels in Mus spretus and Mus musculus ⬇️

Expression of the Kallmann syndrome gene in human fetal brain and in the manipulated chick embryo.

Expression pattern of the Kallmann syndrome gene in the olfactory system suggests a role in neuronal targeting

Functional dissection of the Drosophila Kallmann's syndrome protein DmKal-1.

Genetic interaction between the m-AAA protease isoenzymes reveals novel roles in cerebellar degeneration

Hereditary spastic paraplegia: clinical genetic study of 15 families

Human fetal brain beta-nerve growth factor cDNA: molecular cloning of 5' and 3' untranslated regions

Intramuscular viral delivery of paraplegin rescues peripheral axonopathy in a model of hereditary spastic paraplegia

Intramuscular viral delivery of paraplegin rescues peripheral axonopathy in amodel of hereditary spastic paraplegia.

Is mitochondrial free radical theory of aging getting old?

Kallmann syndrome and the link between olfactory and reproductive development.

Loss of OMA1 delays neurodegeneration by preventing stress-induced OPA1 processing in mitochondria

Loss of prohibitin membrane scaffolds impairs mitochondrial architecture and leads to tau hyperphosphorylation and neurodegeneration

Loss of the m-AAA protease subunit AFG₃L₂ causes mitochondrial transport defects and tau hyperphosphorylation

Maintained cellular function of adrenal medullary cells in parkinsonian dysautonomia

Mapping of the murine Tbl1 gene reveals a new rearrangement between mouse and human X Chromosomes

Microtubule-dependent and independent roles of spastin in lipid droplet dispersion and biogenesis

Mitochondrial quality control: a matter of life and death for neurons

Molecular basis of inherited spastic paraplegias

OPA1 processing reconstituted in yeast depends on the subunit composition of the m-AAA protease in mitochondria

Partial deletion of AFG3L2 causing spinocerebellar ataxia type 28.

Pleiotropic effects of spastin on neurite growth depending on expression levels

Senataxin modulates neurite growth through fibroblast growth factor 8 signalling

Spastin binds to lipid droplets and affects lipid metabolism

Spastin interacts with the centrosomal protein NA14, and is enriched in the spindle pole, the midbody and the distal axon

Spastin subcellular localization is regulated through usage of different translation start sites and active export from the nucleus

Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics

The Kallmann syndrome gene homolog in C. elegans is involved in epidermal morphogenesis and neurite branching

The Mitochondrial m-AAA Protease Prevents Demyelination and Hair Greying.

The breakpoint identified in a balanced de novo translocation t(7;9)(p14.1;q31.3) disrupts the A-kinase (PRKA) anchor protein 2 gene (AKAP2) on chromosome 9 in a patient with Kallmann syndrome and bone anomalies.

The i-AAA protease YME1L and OMA1 cleave OPA1 to balance mitochondrial fusion and fission

The m-AAA Protease Associated with Neurodegeneration Limits MCU Activity in Mitochondria

The m-AAA protease defective in hereditary spastic paraplegia controls ribosome assembly in mitochondria

The mouse Mid1 gene: implications for the pathogenesis of Opitz syndrome and the evolution of the mammalian pseudoautosomal region

The product of X-linked Kallmann's syndrome gene (KAL1) affects the migratory activity of gonadotropin-releasing hormone (GnRH)-producing neurons.

The role of ZFYVE27/protrudin in hereditary spastic paraplegia

Tissue-specific loss of DARS2 activates stress responses independently of respiratory chain deficiency in the heart

Translating m-AAA protease function in mitochondria to hereditary spastic paraplegia

UMODL1/Olfactorin is an extracellular membrane-bound molecule with a restricted spatial expression in olfactory and vomeronasal neurons

Variable and tissue-specific subunit composition of mitochondrial m-AAA protease complexes linked to hereditary spastic paraplegia

Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases

X-linked Kallmann syndrome. A neuronal targeting defect in the olfactory system?