Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Joubert-Syndrom 35

Das Joubert-Syndrom 35 ist eine autosomal rezessive Erkrankung, die durch Mutationen im SUFU-Gen hervorgerufen wird.

Gliederung

Joubert-Syndrom
Joubert-Syndrom 01
Joubert-Syndrom 02
Joubert-Syndrom 03
Joubert-Syndrom 04
Joubert-Syndrom 05
Joubert-Syndrom 06
Joubert-Syndrom 07
Joubert-Syndrom 08
Joubert-Syndrom 09
Joubert-Syndrom 10
Joubert-Syndrom 11
Joubert-Syndrom 12
Joubert-Syndrom 13
Joubert-Syndrom 14
Joubert-Syndrom 15
Joubert-Syndrom 16
Joubert-Syndrom 17
Joubert-Syndrom 18
Joubert-Syndrom 19
Joubert-Syndrom 20
Joubert-Syndrom 21
Joubert-Syndrom 22
Joubert-Syndrom 23
Joubert-Syndrom 24
Joubert-Syndrom 25
Joubert-Syndrom 26
Joubert-Syndrom 27
Joubert-Syndrom 28
Joubert-Syndrom 29
Joubert-Syndrom 30
Joubert-Syndrom 31
Joubert-Syndrom 32
Joubert-Syndrom 33
Joubert-Syndrom 34
Joubert-Syndrom 35
ARL3

Referenzen:

1.

Ismail SA et. al. (2011) Arl2-GTP and Arl3-GTP regulate a GDI-like transport system for farnesylated cargo.

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2.

Cavenagh MM et. al. (1994) ADP-ribosylation factor (ARF)-like 3, a new member of the ARF family of GTP-binding proteins cloned from human and rat tissues.

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3.

None (1998) Assignment of the human ADP-ribosylation factor-like 3 (ARL3) gene to chromosome 10 band q23.3 by radiation hybrid mapping.

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4.

Grayson C et. al. (2002) Localization in the human retina of the X-linked retinitis pigmentosa protein RP2, its homologue cofactor C and the RP2 interacting protein Arl3.

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5.

Zhou C et. al. (2006) Arl2 and Arl3 regulate different microtubule-dependent processes.

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6.

Schrick JJ et. al. (2006) ADP-ribosylation factor-like 3 is involved in kidney and photoreceptor development.

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7.

Veltel S et. al. (2008) The retinitis pigmentosa 2 gene product is a GTPase-activating protein for Arf-like 3.

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8.

Veltel S et. al. (2008) Specificity of Arl2/Arl3 signaling is mediated by a ternary Arl3-effector-GAP complex.

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9.

Alkanderi S et. al. (2018) ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition.

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Update: 11. Oktober 2018

 

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