General Information:

Id: 5,886
Diseases: Bardet-Biedl syndrome 17 - [OMIM]
Homo sapiens
Algerian
article
Reference: Marion V et al.(2012) Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly J. Med. Genet. 49: 317-321 [PMID: 22510444]

Interaction Information:

Comment Single nucleotide polymorphism (SNP) array analysis followed by exome sequencing was performed in a consanguineous Algerian family with two siblings diagnosed with BBS with unusual developmental features, namely situs inversus and insertional polydactyly. A homozygous 5 bp deletion (NM_020347.2:c.402-406del, p.Pro136ThrfsX5) in LZTFL1 was identified. No LZTFL1 transcript was found in the patient's fibroblasts and no protein could be detected. The deletion was identified at the heterozygous state in both parents and in the unaffected brothers and sister.
Formal Description
Interaction-ID: 55630

increases_activity of

Comment Real-time PCR determination on cDNA obtained from dermal fibroblasts of the affected individual versus a healthy control revealed absence of LZTFL1 expression in the affected patient, which correlated with the total absence of protein in the cellular extracts of the dermal fibroblasts.
Formal Description
Interaction-ID: 55631

decreases_quantity of

gene/protein

LZTFL1

in dermal fibroblasts
Comment As it has been recently reported that LZTFL1 depletion results in the activation of the ciliary targeting of Smoothened (Smo), the expression levels of some key players of the Shh signalling cascade such as SMO, PTCH1, GLI1, GLI2, and GLI3 were measured in the dermal fibroblasts derived from patient BBE93. A significant increase in SMO, PTCH1, GLI1, and GLI2 expression levels was detected in the patient’s fibroblasts compared to the control, while the repressor GLI3 remained unchanged compared to control. These data indicate a massive activation of the Shh signalling in the absence of LZTFL1.
Formal Description
Interaction-ID: 55632

increases_expression of

gene/protein

SMO

in dermal fibroblasts
Drugbank entries Show/Hide entries for SMO
Comment As it has been recently reported that LZTFL1 depletion results in the activation of the ciliary targeting of Smoothened (Smo), the expression levels of some key players of the Shh signalling cascade such as SMO, PTCH1, GLI1, GLI2, and GLI3 were measured in the dermal fibroblasts derived from patient BBE93. A significant increase in SMO, PTCH1, GLI1, and GLI2 expression levels was detected in the patient’s fibroblasts compared to the control, while the repressor GLI3 remained unchanged compared to control. These data indicate a massive activation of the Shh signalling in the absence of LZTFL1.
Formal Description
Interaction-ID: 55633

increases_expression of

gene/protein

PTCH1

in dermal fibroblasts
Comment As it has been recently reported that LZTFL1 depletion results in the activation of the ciliary targeting of Smoothened (Smo), the expression levels of some key players of the Shh signalling cascade such as SMO, PTCH1, GLI1, GLI2, and GLI3 were measured in the dermal fibroblasts derived from patient BBE93. A significant increase in SMO, PTCH1, GLI1, and GLI2 expression levels was detected in the patient’s fibroblasts compared to the control, while the repressor GLI3 remained unchanged compared to control. These data indicate a massive activation of the Shh signalling in the absence of LZTFL1.
Formal Description
Interaction-ID: 55634

increases_expression of

gene/protein

GLI1

in dermal fibroblasts
Comment As it has been recently reported that LZTFL1 depletion results in the activation of the ciliary targeting of Smoothened (Smo), the expression levels of some key players of the Shh signalling cascade such as SMO, PTCH1, GLI1, GLI2, and GLI3 were measured in the dermal fibroblasts derived from patient BBE93. A significant increase in SMO, PTCH1, GLI1, and GLI2 expression levels was detected in the patient’s fibroblasts compared to the control, while the repressor GLI3 remained unchanged compared to control. These data indicate a massive activation of the Shh signalling in the absence of LZTFL1.
Formal Description
Interaction-ID: 55635

increases_expression of

gene/protein

GLI2

in dermal fibroblasts
Comment As it has been recently reported that LZTFL1 depletion results in the activation of the ciliary targeting of Smoothened (Smo), the expression levels of some key players of the Shh signalling cascade such as SMO, PTCH1, GLI1, GLI2, and GLI3 were measured in the dermal fibroblasts derived from patient BBE93. A significant increase in SMO, PTCH1, GLI1, and GLI2 expression levels was detected in the patient’s fibroblasts compared to the control, while the repressor GLI3 remained unchanged compared to control. These data indicate a massive activation of the Shh signalling in the absence of LZTFL1.
Formal Description
Interaction-ID: 55636

NOT affects_expression of

gene/protein

GLI3

in dermal fibroblasts
Comment As it has been recently reported that LZTFL1 depletion results in the activation of the ciliary targeting of Smoothened (Smo), the expression levels of some key players of the Shh signalling cascade such as SMO, PTCH1, GLI1, GLI2, and GLI3 were measured in the dermal fibroblasts derived from patient BBE93. A significant increase in SMO, PTCH1, GLI1, and GLI2 expression levels was detected in the patient’s fibroblasts compared to the control, while the repressor GLI3 remained unchanged compared to control. These data indicate a massive activation of the Shh signalling in the absence of LZTFL1.
Formal Description
Interaction-ID: 55637

increases_activity of

in dermal fibroblasts
Comment Single nucleotide polymorphism (SNP) array analysis followed by exome sequencing was performed in a consanguineous Algerian family with two siblings diagnosed with BBS with unusual developmental features, namely situs inversus and insertional polydactyly. A homozygous 5 bp deletion (NM_020347.2:c.402-406del, p.Pro136ThrfsX5) in LZTFL1 was identified. No LZTFL1 transcript was found in the patient's fibroblasts and no protein could be detected. The deletion was identified at the heterozygous state in both parents and in the unaffected brothers and sister.
Formal Description
Interaction-ID: 68491

gene/protein

LZTFL1

affects_activity of