(Q24300810)

GOA release 2020-03-11

protein processing

1 reference

X-prolyl aminopeptidase 3, mitochondrial

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

1 reference

1 reference

55

0 references

Holger Prokisch

50

0 references

Friedhelm Hildebrandt

56

0 references

Lynne Quarmby

36

Lynne M Quarmby

0 references

Takehiro Kusakabe

Takehiro Kusakabe

33

0 references

John A. Sayer

John A Sayer

44

0 references

Edgar A. Otto

Edgar A Otto

6

0 references

Massimo Attanasio

Massimo Attanasio

5

0 references

Agnès Rötig

Agnes Rotig

43

0 references

Dominik Seelow

Dominik Seelow

7

0 references

Joseph G Gleeson

32

Joseph Gleeson

0 references

Hemant Khanna

54

Hemant Khanna

0 references

Peter Nürnberg

51

Peter Nurnberg

0 references

Roger C Wiggins

18

Roger Wiggins

0 references

Moumita Chaki

27

Moumita Chaki

0 references

Gudrun Nürnberg

8

Gudrun Nurnberg

0 references

Saskia F Heeringa

28

Saskia Heeringa

0 references

Gil Chernin

29

Gil Chernin

0 references

Bethan E Hoskins

30

Bethan E Hoskins

0 references

Hassan Chaib

31

Hassan Chaib

0 references

Shazia Ashraf

26

Shazia Ashraf

0 references

Juliana Helou

23

Juliana Helou

0 references

Carlos A Murga-Zamalloa

25

Carlos A Murga-Zamalloa

0 references

Henry Fehrenbach

17

Henry Fehrenbach

0 references

Meera Goyal

19

Meera Goyal

0 references

author name string

John F O'Toole

1

0 references

Yangjian Liu

2

0 references

Erica E Davis

3

0 references

Christopher J Westlake

4

0 references

Christian Becker

9

0 references

Matti Nuutinen

10

0 references

Mikko Kärppä

11

0 references

Jaakko Ignatius

12

0 references

Johanna Uusimaa

13

0 references

Salla Pakanen

14

0 references

Elisa Jaakkola

15

0 references

Lambertus P van den Heuvel

16

0 references

Weibin Zhou

20

0 references

Matthias T F Wolf

21

0 references

Eric Wise

22

0 references

Susan J Allen

24

0 references

Takako Suzuki

34

0 references

R Elwyn Isaac

35

0 references

Bryan Tennant

37

0 references

Hisashi Fujioka

38

0 references

Hannu Tuominen

39

0 references

Ilmo Hassinen

40

0 references

Hellevi Lohi

41

0 references

Judith L van Houten

42

0 references

Boris Rolinski

45

0 references

Peter Freisinger

46

0 references

Sethu M Madhavan

47

0 references

Martina Herzer

48

0 references

Florence Madignier

49

0 references

Peter K Jackson

52

0 references

Peter Jackson

Journal of Clinical Investigation

53

0 references

language of work or name

English

0 references

publication date

March 2010

0 references

published in

0 references

volume

120

0 references

issue

3

0 references

page(s)

791-802

0 references

cites work

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2827951

A systematic approach to mapping recessive disease genes in individuals from outbred populations

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2827951

Ktu/PF13 is required for cytoplasmic pre-assembly of axonemal dyneins

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2827951

Structure of human cytosolic X-prolyl aminopeptidase: a double Mn(II)-dependent dimeric enzyme with a novel three-domain subunit

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2827951

NEK8 mutations affect ciliary and centrosomal localization and may cause nephronophthisis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2827951

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2827951

A role for Alström syndrome protein, alms1, in kidney ciliogenesis and cellular quiescence

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2827951

Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2827951

Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2827951

The intraflagellar transport protein IFT20 is associated with the Golgi complex and is required for cilia assembly

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2827951

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2827951

Dissection of epistasis in oligogenic Bardet-Biedl syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2827951

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2827951

Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2827951

A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2827951

A novel gene that encodes a protein with a putative src homology 3 domain is a candidate gene for familial juvenile nephronophthisis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2827951

The Ciliopathies: An Emerging Class of Human Genetic Disorders

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2827951

High-throughput generation of tagged stable cell lines for proteomic analysis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2827951

Vertebrate Smoothened functions at the primary cilium

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2827951

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2827951

Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2827951

Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2827951

Polycystins 1 and 2 mediate mechanosensation in the primary cilium of kidney cells

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2827951

A novel gene encoding an SH3 domain protein is mutated in nephronophthisis type 1

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2827951

Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2827951

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2827951

Kif3a constrains beta-catenin-dependent Wnt signalling through dual ciliary and non-ciliary mechanisms

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2827951

Disruption of the basal body compromises proteasomal function and perturbs intracellular Wnt response

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2827951

The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2827951

Inversin, the gene product mutated in nephronophthisis type II, functions as a molecular switch between Wnt signaling pathways

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2827951

Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11).

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2827951

Nephronophthisis: disease mechanisms of a ciliopathy

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2827951

A genome-wide association study identifies three loci associated with mean platelet volume

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2827951

Zebrafish mutations affecting cilia motility share similar cystic phenotypes and suggest a mechanism of cyst formation that differs from pkd2 morphants.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2827951

Mutations of HNF-1beta inhibit epithelial morphogenesis through dysregulation of SOCS-3.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2827951

Mutation analysis in nephronophthisis using a combined approach of homozygosity mapping, CEL I endonuclease cleavage, and direct sequencing

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2827951

Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2827951

Nephronophthisis-associated ciliopathies

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2827951

Aminopeptidase P isozyme expression in human tissues and peripheral blood mononuclear cell fractions

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2827951

Evaluation of multiplex capillary heteroduplex analysis: a rapid and sensitive mutation screening technique

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2827951

Loss of Fat4 disrupts PCP signaling and oriented cell division and leads to cystic kidney disease.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2827951

Cystic kidney gene seahorse regulates cilia-mediated processes and Wnt pathways

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2827951

Defective planar cell polarity in polycystic kidney disease

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2827951

Structural and functional implications of metal ion selection in aminopeptidase P, a metalloprotease with a dinuclear metal center.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2827951

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2827951

Cloning and expression of aminopeptidase P gene from Escherichia coli HB101 and characterization of expressed enzyme

29 November 2018

1 reference

12 December 2020

Biochemical and molecular investigations in respiratory chain deficiencies

1 reference

12 December 2020

Optimization of preparation of mitochondria from 25-100 mg skeletal muscle

1 reference

12 December 2020

Measurement of the Energy-Generating Capacity of Human Muscle Mitochondria: Diagnostic Procedure and Application to Human Pathology

1 reference

12 December 2020

Spectrophotometric Assay for Complex I of the Respiratory Chain in Tissue Samples and Cultured Fibroblasts

1 reference

12 December 2020