Lista de obras - Roman Chrast - Dominio Público Uruguay

A hypomorphic mutation in Lpin1 induces progressively improving neuropathy and lipodystrophy in the rat

artículo científico publicado en 2011

A large multiexonic genomic deletion within the ALMS1 gene causes Alström syndrome in a consanguineous Pakistani family

artículo científico publicado en 2015

A missense mutation in myelin oligodendrocyte glycoprotein as a cause of familial narcolepsy with cataplexy

artículo científico publicado en 2011

A role of peripheral myelin protein 2 in lipid homeostasis of myelinating Schwann cells

artículo científico publicado en 2014

Acid-sensing ion channel 1a drives AMPA receptor plasticity following ischaemia and acidosis in hippocampal CA1 neurons

artículo científico publicado en 2015

Aging of myelinating glial cells predominantly affects lipid metabolism and immune response pathways

artículo científico publicado en 2012

Akt Regulates Axon Wrapping and Myelin Sheath Thickness in the PNS

artículo científico publicado en 2016

Altered distribution of juxtaparanodal kv1.2 subunits mediates peripheral nerve hyperexcitability in type 2 diabetes mellitus.

artículo científico publicado en 2012

Altered interplay between endoplasmic reticulum and mitochondria in Charcot-Marie-Tooth type 2A neuropathy

artículo científico publicado en 2019

Blocking mitochondrial calcium release in Schwann cells prevents demyelinating neuropathies

artículo científico publicado en 2016

Cell autonomous lipin 1 function is essential for development and maintenance of white and brown adipose tissue

artículo científico publicado en 2012

Characterization of molecular mechanisms underlying the axonal Charcot-Marie-Tooth neuropathy caused by MORC2 mutations

artículo científico publicado en 2019

Charcot-Marie-Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges

artículo científico publicado en 2017

Cloning of 559 potential exons of genes of human chromosome 21 by exon trapping

artículo científico publicado en 1996

Complement factors in adult peripheral nerve: a potential role in energy metabolism

artículo científico publicado en 2004

Differential gene expression studies to explore the molecular pathophysiology of Down syndrome

article

Disrupted function of lactate transporter MCT1, but not MCT4, in Schwann cells affects the maintenance of motor end-plate innervation

artículo científico publicado en 2020

Distribution of monocarboxylate transporters in the peripheral nervous system suggests putative roles in lactate shuttling and myelination.

artículo científico publicado en 2015

Dysfunction in endoplasmic reticulum-mitochondria crosstalk underlies SIGMAR1 loss of function mediated motor neuron degeneration.

artículo científico publicado en 2015

Endoplasmic reticulum and mitochondria in diseases of motor and sensory neurons: a broken relationship?

artículo científico publicado en 2018

Epineurial adipocytes are dispensable for Schwann cell myelination

artículo científico publicado en 2012

Erratum: Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception

artículo científico publicado en 2015

Expression of mitofusin 2(R94Q) in a transgenic mouse leads to Charcot-Marie-Tooth neuropathy type 2A.

artículo científico publicado en 2010

Gene replacement therapy in a model of Charcot-Marie-Tooth 4C neuropathy

article

Generation and phenotypic analysis of protein S-deficient mice.

artículo científico publicado en 2009

Global transcript expression profiling by Serial Analysis of Gene Expression (SAGE).

artículo científico publicado en 2001

Global transcriptional programs in peripheral nerve endoneurium and DRG are resistant to the onset of type 1 diabetic neuropathy in Ins2 mice

artículo científico publicado en 2010

Hepatic-specific lipin-1 deficiency exacerbates experimental alcohol-induced steatohepatitis in mice

artículo científico publicado en 2013

In vivo time-lapse imaging of mitochondria in healthy and diseased peripheral myelin sheath

artículo científico publicado en 2015

Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness

artículo científico publicado en 2001

Lack of GDAP1 induces neuronal calcium and mitochondrial defects in a knockout mouse model of charcot-marie-tooth neuropathy

artículo científico publicado en 2015

Lipid metabolism in myelinating glial cells: lessons from human inherited disorders and mouse models

artículo científico publicado en 2010

Lipin1 deficiency causes sarcoplasmic reticulum stress and chaperone-responsive myopathy

scientific article published on 12 November 2018

Lipin1 is required for skeletal muscle development by regulating MEF2c and MyoD expression

scientific article published on 26 December 2018

Liver-specific loss of lipin-1-mediated phosphatidic acid phosphatase activity does not mitigate intrahepatic TG accumulation in mice

artículo científico publicado en 2015

Local regulation of fat metabolism in peripheral nerves

artículo científico publicado en 2003

Localization of 102 exons to a 2.5 Mb region involved in Down syndrome

artículo científico publicado en 1995

Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies

artículo científico publicado en 2015

Loss of lipin 1-mediated phosphatidic acid phosphohydrolase activity in muscle leads to skeletal myopathy in mice

artículo científico publicado en 2018

Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration

scientific article published on 12 November 2018

Macrophage-Associated Lipin-1 Enzymatic Activity Contributes to Modified Low-Density Lipoprotein-Induced Proinflammatory Signaling and Atherosclerosis

artículo científico publicado en 2017

Mapping of the human transcription factor GABPA (E4TF1-60) gene to chromosome 21

artículo científico publicado en 1995

Mice trisomic for a bacterial artificial chromosome with the single-minded 2 gene (Sim2) show phenotypes similar to some of those present in the partial trisomy 16 mouse models of Down syndrome

article

Mice with an adipocyte-specific lipin 1 separation-of-function allele reveal unexpected roles for phosphatidic acid in metabolic regulation

artículo científico publicado en 2012

Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor

artículo científico publicado en 2015

Molecular genetics of charcot-marie-tooth disease: from genes to genomes

artículo científico publicado en 2012

Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy

artículo científico publicado en 2003

Myeloid Cell-Specific Lipin-1 Deficiency Stimulates Endocrine Adiponectin-FGF15 Axis and Ameliorates Ethanol-Induced Liver Injury in Mice

artículo científico publicado en 2016

Neuromuscular Junction Changes in a Mouse Model of Charcot-Marie-Tooth Disease Type 4C ⬇️

artículo científico publicado en 2018

Neuronal activity in the hub of extrasynaptic Schwann cell-axon interactions

artículo científico publicado en 2013

New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations

artículo científico publicado en 2013

Novel pathogenic pathways in diabetic neuropathy

artículo científico

Oligodendroglial myelination requires astrocyte-derived lipids

artículo científico publicado en 2017

PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease.

artículo científico publicado en 2018

PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease

artículo científico publicado en 2013

PPARgamma in placental angiogenesis

artículo científico publicado en 2010

PRDM12 Is Required for Initiation of the Nociceptive Neuron Lineage during Neurogenesis

scientific article published on 01 March 2019

Phosphatidic acid mediates demyelination in Lpin1 mutant mice

artículo científico publicado en 2008

Proteomic and metabolomic analyses of mitochondrial complex I-deficient mouse model generated by spontaneous B2 short interspersed nuclear element (SINE) insertion into NADH dehydrogenase (ubiquinone) Fe-S protein 4 (Ndufs4) gene

scientific journal article

Refined localization of dominant intermediate Charcot-Marie-Tooth neuropathy and exclusion of seven known candidate genes in the region

article

Reply: Is SIGMAR1 a confirmed FTD/MND gene?

artículo científico publicado en 2015

SCAP is required for timely and proper myelin membrane synthesis

artículo científico publicado en 2009

SH3TC2, a protein mutant in Charcot-Marie-Tooth neuropathy, links peripheral nerve myelination to endosomal recycling

artículo científico publicado en 2010

SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system

artículo científico publicado en 2009

SREBP-1c expression in Schwann cells is affected by diabetes and nutritional status.

artículo científico

Sh3tc2 deficiency affects neuregulin-1/ErbB signaling

scientific journal article

Single-minded and Down syndrome?

artículo científico publicado en 1995

Sox4 participates in the modulation of Schwann cell myelination

artículo científico publicado en 2015

The Role of Peripheral Myelin Protein 2 in Remyelination

artículo científico publicado en 2017

The glucocorticoid-induced leucine zipper (gilz/Tsc22d3-2) gene locus plays a crucial role in male fertility

artículo científico publicado en 2012

The mouse brain transcriptome by SAGE: differences in gene expression between P30 brains of the partial trisomy 16 mouse model of Down syndrome (Ts65Dn) and normals

artículo científico publicado en 2000

Transcriptional regulator PRDM12 is essential for human pain perception

artículo científico publicado en 2015

Lista de obras de Roman Chrast

A hypomorphic mutation in Lpin1 induces progressively improving neuropathy and lipodystrophy in the rat

A large multiexonic genomic deletion within the ALMS1 gene causes Alström syndrome in a consanguineous Pakistani family

A missense mutation in myelin oligodendrocyte glycoprotein as a cause of familial narcolepsy with cataplexy

A role of peripheral myelin protein 2 in lipid homeostasis of myelinating Schwann cells

Acid-sensing ion channel 1a drives AMPA receptor plasticity following ischaemia and acidosis in hippocampal CA1 neurons

Aging of myelinating glial cells predominantly affects lipid metabolism and immune response pathways

Akt Regulates Axon Wrapping and Myelin Sheath Thickness in the PNS

Altered distribution of juxtaparanodal kv1.2 subunits mediates peripheral nerve hyperexcitability in type 2 diabetes mellitus.

Altered interplay between endoplasmic reticulum and mitochondria in Charcot-Marie-Tooth type 2A neuropathy

Blocking mitochondrial calcium release in Schwann cells prevents demyelinating neuropathies

Cell autonomous lipin 1 function is essential for development and maintenance of white and brown adipose tissue

Characterization of molecular mechanisms underlying the axonal Charcot-Marie-Tooth neuropathy caused by MORC2 mutations

Charcot-Marie-Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges

Cloning of 559 potential exons of genes of human chromosome 21 by exon trapping

Complement factors in adult peripheral nerve: a potential role in energy metabolism

Differential gene expression studies to explore the molecular pathophysiology of Down syndrome

Disrupted function of lactate transporter MCT1, but not MCT4, in Schwann cells affects the maintenance of motor end-plate innervation

Distribution of monocarboxylate transporters in the peripheral nervous system suggests putative roles in lactate shuttling and myelination.

Dysfunction in endoplasmic reticulum-mitochondria crosstalk underlies SIGMAR1 loss of function mediated motor neuron degeneration.

Endoplasmic reticulum and mitochondria in diseases of motor and sensory neurons: a broken relationship?

Epineurial adipocytes are dispensable for Schwann cell myelination

Erratum: Corrigendum: Transcriptional regulator PRDM12 is essential for human pain perception

Expression of mitofusin 2(R94Q) in a transgenic mouse leads to Charcot-Marie-Tooth neuropathy type 2A.

Gene replacement therapy in a model of Charcot-Marie-Tooth 4C neuropathy

Generation and phenotypic analysis of protein S-deficient mice.

Global transcript expression profiling by Serial Analysis of Gene Expression (SAGE).

Global transcriptional programs in peripheral nerve endoneurium and DRG are resistant to the onset of type 1 diabetic neuropathy in Ins2 mice

Hepatic-specific lipin-1 deficiency exacerbates experimental alcohol-induced steatohepatitis in mice

In vivo time-lapse imaging of mitochondria in healthy and diseased peripheral myelin sheath

Insertion of beta-satellite repeats identifies a transmembrane protease causing both congenital and childhood onset autosomal recessive deafness

Lack of GDAP1 induces neuronal calcium and mitochondrial defects in a knockout mouse model of charcot-marie-tooth neuropathy

Lipid metabolism in myelinating glial cells: lessons from human inherited disorders and mouse models

Lipin1 deficiency causes sarcoplasmic reticulum stress and chaperone-responsive myopathy

Lipin1 is required for skeletal muscle development by regulating MEF2c and MyoD expression

Liver-specific loss of lipin-1-mediated phosphatidic acid phosphatase activity does not mitigate intrahepatic TG accumulation in mice

Local regulation of fat metabolism in peripheral nerves

Localization of 102 exons to a 2.5 Mb region involved in Down syndrome

Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies

Loss of lipin 1-mediated phosphatidic acid phosphohydrolase activity in muscle leads to skeletal myopathy in mice

Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration

Macrophage-Associated Lipin-1 Enzymatic Activity Contributes to Modified Low-Density Lipoprotein-Induced Proinflammatory Signaling and Atherosclerosis

Mapping of the human transcription factor GABPA (E4TF1-60) gene to chromosome 21

Mice trisomic for a bacterial artificial chromosome with the single-minded 2 gene (Sim2) show phenotypes similar to some of those present in the partial trisomy 16 mouse models of Down syndrome

Mice with an adipocyte-specific lipin 1 separation-of-function allele reveal unexpected roles for phosphatidic acid in metabolic regulation

Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor

Molecular genetics of charcot-marie-tooth disease: from genes to genomes

Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy

Myeloid Cell-Specific Lipin-1 Deficiency Stimulates Endocrine Adiponectin-FGF15 Axis and Ameliorates Ethanol-Induced Liver Injury in Mice

Neuromuscular Junction Changes in a Mouse Model of Charcot-Marie-Tooth Disease Type 4C ⬇️

Neuronal activity in the hub of extrasynaptic Schwann cell-axon interactions

New findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutations

Novel pathogenic pathways in diabetic neuropathy

Oligodendroglial myelination requires astrocyte-derived lipids

PFN2 and GAMT as common molecular determinants of axonal Charcot-Marie-Tooth disease.

PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot-Marie-Tooth disease

PPARgamma in placental angiogenesis

PRDM12 Is Required for Initiation of the Nociceptive Neuron Lineage during Neurogenesis

Phosphatidic acid mediates demyelination in Lpin1 mutant mice

Proteomic and metabolomic analyses of mitochondrial complex I-deficient mouse model generated by spontaneous B2 short interspersed nuclear element (SINE) insertion into NADH dehydrogenase (ubiquinone) Fe-S protein 4 (Ndufs4) gene

Refined localization of dominant intermediate Charcot-Marie-Tooth neuropathy and exclusion of seven known candidate genes in the region

Reply: Is SIGMAR1 a confirmed FTD/MND gene?

SCAP is required for timely and proper myelin membrane synthesis

SH3TC2, a protein mutant in Charcot-Marie-Tooth neuropathy, links peripheral nerve myelination to endosomal recycling

SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system

SREBP-1c expression in Schwann cells is affected by diabetes and nutritional status.

Sh3tc2 deficiency affects neuregulin-1/ErbB signaling

Single-minded and Down syndrome?

Sox4 participates in the modulation of Schwann cell myelination

The Role of Peripheral Myelin Protein 2 in Remyelination

The glucocorticoid-induced leucine zipper (gilz/Tsc22d3-2) gene locus plays a crucial role in male fertility

The mouse brain transcriptome by SAGE: differences in gene expression between P30 brains of the partial trisomy 16 mouse model of Down syndrome (Ts65Dn) and normals

Transcriptional regulator PRDM12 is essential for human pain perception