(Q28114961)

3 January 2017

title

Rare Variants in MME, Encoding Metalloprotease Neprilysin, Are Linked to Late-Onset Autosomal-Dominant Axonal Polyneuropathies (English)

1 reference

Membrane metalloendopeptidase

3 January 2017

main subject

1 reference

GOA release 2020-03-11

proteolysis

1 reference

GOA release 2020-03-11

author

Sabine Rudnik-Schöneborn

17

0 references

Michaela Auer-Grumbach

1

0 references

Beate Schlotter-Weigel

18

0 references

Regina Fink-Puches

11

0 references

Jan Senderek

32

0 references

Reinhard Windhager

25

0 references

Maria Schabhüttl

3

0 references

Manuela Zitzelsberger

26

0 references

Stephan Züchner

30

0 references

Daniela Weinmann

Daniela Weinmann

4

0 references

Stefan Toegel

Stefan Toegel

2

0 references

Christian Beetz

Christian Beetz

7

0 references

Rudolf Martini

Rudolf Martini

31

0 references

Albert C. Ludolph

21

Albert C. Ludolph

1 reference

3 January 2017

9

Peter M. Andersen

1 reference

3 January 2017

15

Mary M. Reilly

1 reference

3 January 2017

29

Steven S. Scherer

1 reference

3 January 2017

16

Wilfried Renner

1 reference

3 January 2017

Catharina Chiari

5

1 reference

3 January 2017

David L. H. Bennett

6

1 reference

3 January 2017

Dennis Klein

8

1 reference

3 January 2017

Ilka Böhme

10

1 reference

3 January 2017

Michael Gonzalez

12

1 reference

3 January 2017

Matthew B. Harms

13

1 reference

3 January 2017

William Motley

14

1 reference

3 January 2017

Andreas C. Themistocleous

19

1 reference

3 January 2017

Jochen H. Weishaupt

20

1 reference

3 January 2017

Thomas Wieland

22

1 reference

3 January 2017

Feifei Tao

23

1 reference

3 January 2017

Lisa Abreu

24

1 reference

3 January 2017

Tim M. Strom

27

1 reference

3 January 2017

Thomas Walther

28

1 reference

3 January 2017

language of work or name

English

0 references

publication date

1 September 2016

1 reference

American Journal of Human Genetics

3 January 2017

published in

1 reference

3 January 2017

volume

99

1 reference

3 January 2017

issue

3

1 reference

3 January 2017

page(s)

607–623

1 reference

Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

3 January 2017

cites work

1 reference

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Transcriptional regulator PRDM12 is essential for human pain perception

20 March 2017

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20 March 2017

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Sixty years of transthyretin familial amyloid polyneuropathy (TTR-FAP) in Europe: where are we now? A European network approach to defining the epidemiology and management patterns for TTR-FAP

20 March 2017

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Angiotensin-neprilysin inhibition versus enalapril in heart failure

20 March 2017

1 reference

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Intraepidermal nerve fiber density at the distal leg: a worldwide normative reference study

20 March 2017

1 reference

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Lack of neprilysin suffices to generate murine amyloid-like deposits in the brain and behavioral deficit in vivo

20 March 2017

1 reference

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Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2.

20 March 2017

1 reference

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MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs

29 September 2017

1 reference

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Charcot-Marie-Tooth diseases: an update and some new proposals for the classification

29 September 2017

1 reference

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How Schwann Cells Sort Axons: New Concepts

29 September 2017

1 reference

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Lack of neuropathy-related phenotypes in hint1 knockout mice.

29 September 2017

1 reference

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The Gdap1 knockout mouse mechanistically links redox control to Charcot-Marie-Tooth disease.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5011077

Contrasting the glial response to axon injury in the central and peripheral nervous systems

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5011077

Transthyretin familial amyloid polyneuropathy

29 September 2017

1 reference

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Exome sequencing identifies a significant variant in methionyl-tRNA synthetase (MARS) in a family with late-onset CMT2

29 September 2017

1 reference

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Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population.

29 September 2017

1 reference

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The global prevalence of dementia: a systematic review and metaanalysis

29 September 2017

1 reference

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

29 September 2017

1 reference

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29 September 2017

Small fibre neuropathy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5011077

Idiopathic neuropathy: new paradigms, new promise.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5011077

The family of mammalian small heat shock proteins (HSPBs): implications in protein deposit diseases and motor neuropathies

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5011077

Processing of nerve biopsies: a practical guide for neuropathologists

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5011077

Colony-stimulating factor-1 mediates macrophage-related neural damage in a model for Charcot-Marie-Tooth disease type 1X

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5011077

Recessive axonal Charcot-Marie-Tooth disease due to compound heterozygous mitofusin 2 mutations.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5011077

Mitochondrial dynamics in mammalian health and disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5011077

The G526R glycyl-tRNA synthetase gene mutation in distal hereditary motor neuropathy type V.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5011077

Neprilysin regulates amyloid Beta peptide levels

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5011077

The role of macrophages in demyelinating peripheral nervous system of mice heterozygously deficient in p0.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5011077

Neutral endopeptidase modulation of septic shock.

29 September 2017

1 reference

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Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. I. Neurologic, genetic, and electrophysiologic findings in hereditary polyneuropathies

29 September 2017

1 reference

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Elevated Plasma B-Type Natriuretic Peptide Concentrations Directly Inhibit Circulating Neprilysin Activity in Heart Failure

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5011077

Mammalian membrane metallopeptidases: NEP, ECE, KELL, and PEX.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5011077

The metabolism of neuropeptides. The hydrolysis of peptides, including enkephalins, tachykinins and their analogues, by endopeptidase-24.11.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5011077

Amyloid beta-protein deposition in tissues other than brain in Alzheimer's disease

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5011077

Soluble neprilysin is predictive of cardiovascular death and heart failure hospitalization in heart failure patients.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5011077

Genetic homogeneity but IgG subclass-dependent clinical variability of alloimmune membranous nephropathy with anti-neutral endopeptidase antibodies

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5011077

Amyloid polyneuropathy caused by wild-type transthyretin

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5011077

Mitochondrial membrane protein associated neurodegenration: a novel variant of neurodegeneration with brain iron accumulation

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5011077

Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5011077

Neprilysin deficiency-dependent impairment of cognitive functions in a mouse model of amyloidosis

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5011077

Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations.

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5011077

Enhancement of neutral endopeptidase activity in SK-N-SH cells by green tea extract

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5011077

Attenuation of MCP-1/CCL2 expression ameliorates neuropathy in a mouse model for Charcot-Marie-Tooth 1X

27 November 2018

1 reference

12 December 2020

Late onset dHMN II caused by c.404C>G mutation in HSPB1 gene

1 reference

12 December 2020

High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia

1 reference

12 December 2020

Expression of common acute lymphoblastic leukemia antigen (CD 10) by myelinated fibers of the peripheral nervous system

1 reference

12 December 2020

Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene

1 reference

12 December 2020

Functional abnormalities in P0-deficient mice resemble human hereditary neuropathies linked to P0 gene mutations

1 reference

12 December 2020

Neutral endopeptidase can hydrolyze beta-amyloid(1-40) but shows no effect on beta-amyloid precursor protein metabolism

1 reference

12 December 2020

Intensive evaluation of referred unclassified neuropathies yields improved diagnosis

1 reference

12 December 2020

Increased pain and neurogenic inflammation in mice deficient of neutral endopeptidase

1 reference

12 December 2020

Late-onset hereditary axonal neuropathies

1 reference

12 December 2020

Structural abnormalities and deficient maintenance of peripheral nerve myelin in mice lacking the gap junction protein connexin 32

1 reference

12 December 2020

Mutations in the HSP27 (HSPB1) gene cause dominant, recessive, and sporadic distal HMN/CMT type 2

1 reference

12 December 2020

Expression of Endopeptidase-24.11 (Common Acute Lymphoblastic Leukaemia Antigen CDI0) in the Sciatic Nerve of the Adult Rat After Lesion and During Regeneration

1 reference

12 December 2020

Role of truncating mutations in MME gene in fetomaternal alloimmunisation and antenatal glomerulopathies

1 reference

12 December 2020

Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene

1 reference

12 December 2020