List of works - Elena I Rugarli

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

scientific article

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

scientific article

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

scientific article

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

scientific article

AFG3L2 supports mitochondrial protein synthesis and Purkinje cell survival

scientific article

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

scientific article

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

scientific article published on 16 April 2019

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

scientific article

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

scientific article published in August 1991

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

scientific article published on 13 May 2022

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

scientific article published on 09 March 2020

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

scientific article

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

scientific article published on 10 February 2017

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

scientific article

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

scientific article

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

scientific article

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

scientific article published in June 1990

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

scientific article

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

scientific article published in November 2004

Emerging roles of mitochondrial proteases in neurodegeneration

scientific article published on 05 August 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 ⬇️

scientific article published on August 19, 1997

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

scientific article published in October 1994

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

scientific article published in May 1993

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

scientific article

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

scientific article published on 16 March 2009

Hereditary spastic paraplegia: clinical genetic study of 15 families

scientific article published in June 2004

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

scientific article published in June 1991

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

scientific article

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

scientific article

Is mitochondrial free radical theory of aging getting old?

scientific article published on 15 August 2015

JAGGED2: a putative Notch ligand expressed in the apical ectodermal ridge and in sites of epithelial–mesenchymal interactions ⬇️

scientific article published on December 1, 1997

Kallmann syndrome and the link between olfactory and reproductive development.

scientific article

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

scientific article

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

scientific article

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

scientific article

Maintained cellular function of adrenal medullary cells in parkinsonian dysautonomia

scholarly article published in Functional neurology

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

scientific article published on 21 February 2012

Molecular basis of inherited spastic paraplegias

scientific article

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

scientific article

Partial deletion of AFG3L2 causing spinocerebellar ataxia type 28.

scientific article published on 9 May 2014

Pleiotropic effects of spastin on neurite growth depending on expression levels

scientific article

Senataxin modulates neurite growth through fibroblast growth factor 8 signalling

scientific article

Spastin binds to lipid droplets and affects lipid metabolism

scientific article

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

scientific article published on 21 July 2004

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

scientific article

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

scientific article (publication date: 15 January 2002)

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

scientific article published in March 2002

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

scientific article

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.

scientific article published in March 2007

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

scientific article (publication date: 17 March 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

scientific article

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

scientific article published in March 1998

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

scientific article

The role of ZFYVE27/protrudin in hereditary spastic paraplegia

scientific article published on July 2008

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

scientific article published on March 2014

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

scientific article

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

scientific article published on 13 November 2006

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

scientific article

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

scientific article

List of works by 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?

JAGGED2: a putative Notch ligand expressed in the apical ectodermal ridge and in sites of epithelial–mesenchymal interactions ⬇️

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?